Charles E. Schwartz, PhD

Director of Research and Head of JC Self Research Institute
Director - Center for Molecular Studies
Senior Research Scientist

Charles Schwartz 12My research interests have focused on the causes of intellectual disabilities and birth defects. For the former, my laboratory has concentrated on identifying genes responsible for X-linked intellectual disabilities (XLID). To date, over 700 families have been enrolled in our project. Linkage has been achieved in 72 of the families and we have cloned 27 XLID genes.

Of particular note, we have determined that mutations in the creatine transporter gene (SLC6A8) in Xq28 are responsible for just under 1 percent of males with XLID. As there is a biochemical assay available to examine levels of creatine in serum, we are exploring the possibility of using a screening test in males with MR. Additionally, we have shown that mutations in the thyroid hormone transporter, MCT8, causes Allan-Herndon-Dudley syndrome. Since these patients have elevated T3 levels, it is possible to use a biochemical assay to screen for this condition. Lastly, we have identified mutations in the spermine synthase gene (SMS) which are associated with XLID and seizures. This gene converts spermidine to spermine and affected males have an abnormally high ratio of these polyamines in their white cells. We are currently exploring some avenues for treatment using cell culture and small molecules which might correct the enzymatic defect.

For the past decade, the laboratory has conducted research into the genetic causes of Autism Spectrum Disorder (ASD) utilizing a cohort of 200 patients selected as part of our South Carolina Autism Project. Our laboratory was one of the first to identify alterations in NLGN4, Neurexin 1a and Neurexin 1b as being genes associated with ASD. We also identified SLC9A6 and PTCHD1 as being responsible for X-linked syndromes in which autism was a major component. Most recently, we utilized a metabolic platform developed by Biolog, Inc. (Hayward, CA) to determine cells from patients with ASD fail to utilize tryptophan as efficiently as controls.

With respect to birth defects, a project exists to identify genes responsible for ectrodactyly (split hand/split foot). Previously, using linkage analysis in eight families, my group localized a gene for this entity to 10q24. In 2003, we identified a complex, localized, chromosomal rearrangement in 10q24 that results in a small tandem duplication in SHFM3 patients. Currently, this research is focused on understanding how this chromosomal change gives rise to SHFM3. Most recently, in collaboration with a group at UCSF, we have identified a new class of enhancers in the SHFM1 region in chromosome 7q21 which regulate two genes involved in limb development. In collaboration with another group at CHEO in Ottawa, we have identified a duplicated region in 17p13.3 which is present in some families with SHFM associated with long bone deficiency. We are presently trying to understand how this duplication causes this particular phenotype.

Recently, my group has begun research projects involving genes associated with autosomal forms of intellectual disability and autism utilizing clinical material available at GGC. We have identified an autosomal recessive mutation in the ST3GAL5 gene using whole exome next generation sequencing. This gene is the major enzyme in the ganglioside biosynthetic pathway and the missense mutation results in a total absence of GM3 and a severe neurocutaneous syndrome. We plan to apply whole exome sequencing in additional families with ID or autism in the hope of identifying novel genetic alterations responsible for various phenotypes.

Submission of Samples: Geneticists or clinicians interested in submitting samples for ID, autosomal ID, autism or SHFM studies should contact Cindy Skinner, sample coordinator ( This email address is being protected from spambots. You need JavaScript enabled to view it. ) or 800-939-1920. Mrs. Skinner will be able to provide details of sample submission requirements as well as proper consent forms.

Selected Publications

  • Chandree L Beaulieu, Lijia Huang, A Micheil Innes, Marie-Andree Akimenko, Erik G Puffenberger, Charles Schwartz, Paul Jerry, Carole Ober, Robert A Hegele, D Ross McLeod, Jeremy Schwartzentruber, FORGE Canada Consortium, Jacek Majewski, Dennis E Bulman, Jillian S Parboosingh and Kym M Boycott. Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet Journal of Rare Diseases 2013, 8:62
  • van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013 May 3. [Epub ahead of print]

  • Cristino AS, Williams SM, Hawi Z, An JY, Bellgrove MA, Schwartz CE, Costa LD, Claudianos C. Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system. Mol Psychiatry. 2013 Feb 26. doi: 10.1038/mp.2013.16. [Epub ahead of print]

  • Grafodatskaya D, Chung BH, Butcher DT, Turinsky AL, Goodman SJ, Choufani S, Chen YA, Lou Y, Zhao C, Rajendram R, Abidi FE, Skinner C, Stavropoulos J, Bondy CA, Hamilton J, Wodak S, Scherer SW, Schwartz CE, Weksberg R. Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. BMC Med Genomics. 2013 Jan 28;6:1. doi: 10.1186/1755-8794-6-1.

  • Godler DE, Inaba Y, Shi EZ, Skinner C, Bui QM, Francis D, Amor DJ, Hopper JL, Loesch DZ, Hagerman RJ, Schwartz CE, Slater HR. Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty. Hum Mol Genet. 2013 Apr 15;22(8):1516-24. doi: 10.1093/hmg/ddt002. Epub 2013 Jan 10.

  • Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG. MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling. Proc Natl Acad Sci U S A. 2012 Nov 27;109(48):19763-8. doi: 10.1073/pnas.1121120109. Epub 2012 Oct 22.

  • Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L. eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. Mol Cell. 2012 Nov 30;48(4):641-6. doi: 10.1016/j.molcel.2012.09.005. Epub 2012 Oct 11.

  • Inaba Y, Herlihy AS, Schwartz CE, Skinner C, Bui QM, Cobb J, Shi EZ, Francis D, Arvaj A, Amor DJ, Pope K, Wotton T, Cohen J, Hewitt JK, Hagerman RJ, Metcalfe SA, Hopper JL, Loesch DZ, Slater HR, Godler DE. Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study. Genet Med. 2013 Apr;15(4):290-8. doi: 10.1038/gim.2012.134. Epub 2012 Oct 11.

  • Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N. Functional characterization of tissue-specific enhancers in the DLX5/6 locus. Hum Mol Genet. 2012 Nov 15;21(22):4930-8. doi: 10.1093/hmg/dds336. Epub 2012 Aug 21.

  • Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE. Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet. 2013 Mar;21(3):310-6. doi: 10.1038/ejhg.2012.175. Epub 2012 Aug 15.

  • Takano K, Liu D, Tarpey P, Gallant E, Lam A, Witham S, Alexov E, Chaubey A, Stevenson RE, Schwartz CE, Board PG, Dulhunty AF. An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. Hum Mol Genet. 2012 Oct 15;21(20):4497-507. Epub 2012 Jul 19.

  • Simensen RJ, Rogers RC, Collins JS, Abidi F, Schwartz CE, Stevenson RE. Short-term memory deficits in carrier females with KDM5C mutations. Genet Couns. 2012;23(1):31-40.
  • Hettinger JA, Liu X, Hudson ML, Lee A, Cohen IL, Michaelis RC, Schwartz CE, Lewis SM, Holden JJ. DRD2 and PPP1R1B(DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families. Behav Brain Func 2012 May 4;8(1):19.

  • Bedoyan JK, Schaibley VM, Skinner C, Schwartz CE, et al. Disruption of RAB40AL function leads to Martine-Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. J Med Genet 2012 May. 49(5):332-40

  • Radhakrishna U, Nath SK, McElreavey K, et al., Everman DB, Schwartz CE. Genome-wide linkage and copy number variation analysis reveals 710kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. J Med Genet 2012 Apr;49(4):270-276.

  • Schwartz CE, Neri G. Autism and intellectual disability: two sides of the same coin. Am J Med Genet C Semin Med Genet. 2012 May 15;160C(2):89-90.
  • Lubs HA, Stevenson RE, Schwartz CE. Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet. 2012 Apr 6;90(4):579-90.
  • Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, Lomvardas S, Ahituv N. Coding exons function as tissue-specific enhancers of nearby genes. Genome Res. 2012 Jun;22(6):1059-68. 
  • Stevenson RE, Holden KR, Rogers RC, Schwartz CE. Seizures and X-linked intellectual disability. Eur J Med Genet. 2012 May;55(5):307-12. 
  • Takano K, Tan WH, Irons MB, Jones JR, Schwartz CE. Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. Clin Genet. 2011 Dec;80(6):600-1.
  • Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, Dupont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE. 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). Eur J Hum Genet. 2011 Jun 1. [Epub ahead of print]
  • Marom D, Albin A, Schwartz C, Har-Zahav A, Straussberg R, Bartel F, Birk E, Inbar D, Basel-Vanagaite L. X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome? Am J Med Genet A. 2011 Aug;155(8):1959-63.
  • Zhang Z, Norris J, Schwartz CE, Alexov E. In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase. PLoS One 2011;6(5):e20373. Epub 2011 May 27.

  • Franek KJ, Butler J, Johnson J, Simensen R, Friez MJ, Bartel F, Moss T, DuPOnt B, Berry K, Bauman M, Skinner C, Stevenson, RE, Schwartz CE. Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. AM J Med Genet A. 2011 May;155(5):1109-14.

  • Sowell J, Norris J, Jones K, Schwartz C, Wood T. Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry. Clin Chim Acta. 2011 Mar 18;412(7-8):655-60.
  • Schwartz CE, Wang X, Stevenson RE, Pegg AE. Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome). Methods Mol Biol. 2011;720:437-45.

  • Mejias R, Adamczyk A, Anggono V, Niranjan T, Thomas GM, Sharma K, Skinner C, Schwartz CE, Stevenson RE, Fallin MD, Kaufmann W, Pletnikov M, Valle D, Huganir RL, Wang T. Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism. Proc Natl Acad Sci USA. 2011 Mar 22;108(12):4920-5.

  • Carter MT, Geraghty MT, DeLa Cruz L, Reichard RR, Boccoti L, Schwartz CE, Clericuaio CL. A new syndrome with mulitiple capillary malformations, intractable seizures, and brain and limb anomalies. Am J Med Genet A. 2011 Feb:155(2):301-6.

  • Teng S, Srivastava AK, Schwartz CE, Alexov E, Wang L. Strictural Assessment of the Effects of Amino Acid Substitutions on Protein Stability and Protein-Protein Interaction. Int J Comput Biol Drug Des. 2011;3(4):334-49.
  • Betsalel OT, Rosenberg EH, Almeida LS, Kleefstra T, Schwartz CE, Valayannopoulos V, Abdul-Rahman O, Poplawski N, Vilarinho L, Wolf P, den Dunnen JT, Jakobs C, Salomons GS. Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. Eur J Hum Genet. 2011 Jan:19(1)56-63.

  • Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE. Natural history of Christianson syndrome. Am J Med Genet A. 2010 Nov;152A(11):2775-83.

  • McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, AN J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore, R, Kelley RI, Jones SJM, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome, The American Journal of Human Genetics (2010), doi:10.1016/j.ajhg.2010.11.004

  • Pegg AE, Wang X, Schwartz CE, McCloskey DE. Spermine synthase activity affects the content of decarboxylated S-adenosylmethionine. Biochem J. 2010 Dec 15;433(1):139-44.

  • Satterfield BC, Garcia RA, Gurrieri F, Schwartz CE. PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism. Mol Autism. 2010 Oct 14;1(1):14.

  • Zhang Z, Teng S, Wang L, Schwartz CE, Alexov E. Computational analysis of missense mutations causing Snyder-Robinson syndrome. Hum Mutat. 2010 Sep;31(9):1043-9.

  • Yilmaz A, Hamel N, Schwartz CE, Houlston RS, Harper JI, Foulkes WD. A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays. J Hum Genet. 2010 Sep;55(9):627-30.

  • Tapia VE, Nicolaescu E, McDonald CB, Musi V, Oka T, Inayoshi Y, Satteson AC, Mazack V, Humbert J, Gaffney CJ, Beullens M, Schwartz CE, Landgraf C, Volkmer R, Pastore A, Farooq A, Bollen M, Sudol M. Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. J Biol Chem. 2010 Jun 18;285(25):19391-401.

  • Garbern JY, Neumann M, Trojanowski JQ, Lee VM, Feldman G, Norris JW, Friez MJ, Schwartz CE, Stevenson R, Sima AA. A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition. Brain. 2010 May;133(Pt 5):1391-402.

  • Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. Am J Med Genet A. 2010 Mar;152A(3):638-45.

  • Takano K, Lyons M, Moyes C, Jones J, Schwartz CE. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clin Genet. 2010 Sep;78(3):282-8.

  • Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet. 2010 May;18(5):544-52. Epub 2009 Dec 23. Erratum in: Eur J Hum Genet. 2010 May;18(5):552.

  • Musante L, Kunde SA, Sulistio TO, Fischer U, Grimme A, Frints SG, Schwartz CE, Martínez F, Romano C, Ropers HH, Kalscheuer VM. Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Hum Mutat. 2010 Jan;31(1):90-8.

  • Jackson PB, Boccuto L, Skinner C, Collins JS, Neri G, Gurrieri F, Schwartz CE. Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.Autism Res. 2009 Aug;2(4):232-6.

  • Wu Y, Arai AC, Rumbaugh G, Srivastava AK, Turner G, Hayashi T, Suzuki E, Jiang Y, Zhang L, Rodriguez J, Boyle J, Tarpey P, Raymond FL, Nevelsteen J, Froyen G, Stratton M, Futreal A, Gecz J, Stevenson R, Schwartz CE, Valle D, Huganir RL, Wang T. Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proc Natl Acad Sci U S A. 104:18163-18168, 2007.

  • Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet. 39:1127-33, 2007.

  • Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague JW, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson, RE. The original Lujan Syndrome Family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet 44:472-477, 2007.

  • Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet 39(4):451-3, 2007.

  • Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J. The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. Am J Hum Genet 80(2):372-7, 2007.

  • Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Harrison R, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Moon J, Luo Y, Holder S, Smithson SF, Hurst JA, Clayton-Smith J, Kerr B, Boyle J, Shaw M, Vandeleur L, Rodriguez J, Slaugh R, Easton DF, Wooster R, Bobrow M, Srivastava AK, Stevenson RE, Schwartz CE, Turner G, Gecz J, Futreal PA, Stratton MR, Partington M: Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet 80: 345-52, 2007.

  • Raymond FL, Tarpey PS, Edkins S, Tofts C, O'Meara S, Teague J, Butler A, Stevens C, Barthorpe S, Buck G, Cole J, Dicks E, Gray K, Halliday K, Hills K, Hinton J, Jones D, Menzies A, Perry J, Raine K, Shepherd R, Small A, Varian J, Widaa S, Mallya U, Moon J, Luo Y, Shaw M, Boyle J, Kerr B, Turner G, Quarrell O, Cole T, Easton DF, Wooster R, Bobrow M, Schwartz CE, Gecz J, Stratton MR, Futreal PA. Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am J Hum Genet. 80:982-987, 2007.

  • Schwartz CE, Stevenson RE. The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Pract Res Clin Endocrinol Metab. Jun;21(2):307-21, 2007. Review.

  • Abidi FE, Miano MG, Murray JC, Schwartz CE. A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. Clin Genet. 72:19-22, 2007.

  • Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gecz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A. Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet 118:578-590, 2006.

  • Shalev SA, Chervinski E, Weiner E, Mazor G, Friez MJ, Schwartz CE. Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. Am J Med Genet A. 140:162-165, 2006.

  • Basel-Vanagaite L, Straussberg R, Friez MJ, Inbar D, Korenreich L, Shohat M, Schwartz CE. Expanding the phenotypic spectrum of L1CAM-associated disease. Clin Genet 69:414-419, 2006.

  • Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet 119:604-610, 2006.

  • Lubs H, Abidi FE, Echeverri R, Holloway L, Meindl A, Stevenson RE, Schwartz CE. Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. J Med Genet 43:e30, 2006.

  • Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE. Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. Am J Med Genet A. 140(13):1375-1383, 2006.

  • Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz CE, Longshore J, Willard HF. X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet 79:493-499, 2006.

  • Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 118(6):e1687-95.

  • Feng J, Schroer R, Yan J, Song W, Yang C, Bockholt A, Cook EH Jr, Skinner C, Schwartz CE, Sommer SS. High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett 409(1):10-3, 2006.

  • Hunter AGW, Dupont B, McLaughlin M, Hinton L, Baker E, Ades L, Haan E, Schwartz CE. The Hunter McAlpine syndrome results from duplication 5q35-qter. Clin Genet 67:53-60, 2005.

  • Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattei MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE. Mutation in the 5’ alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. Eur J Hum Genet 13:176-183, 2005.

  • Ramser J, Abidi FE, Lenski K, Toriello H, Wen G, Lubs HA, Stevenson RE, Meindl A, Schwartz CE. A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of rennin receptor. Hum Molec Genet 14:1019-1027, 2005.

  • Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse J, Van Esch H, Lacombe D, Tuy FPD, van Bokhoven H, Fryns JP, Chelly J, Ropers HH, Morain C, Hamel BCJ, Briault S. Mutations in PHF8 are associated with X-linked mental retardation and cleft lip/cleft palate. J Med Genet 42:780-786, 2005.

  • Stepp ML, Cason AL, Finnis M, Mangelsdorf M, Holinski-Feder E, Macgregor D, MackMillan A, Holden JJA, Gecz J, Stevenson RE, Schwartz CE. XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. BMC Med Genet 6:16, 2005.

  • Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 77:41-53, 2005.

  • Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Renpenning syndrome comes into focus. Am J Med Genet A 134:415-421, 2005.

  • Holden KR, Zuniga OF, May MM, Su H, Molinero MR, Rogers RC, Schwartz CE. X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol 20:852-857, 2005.

  • Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Kooy RF, Lubs HA, Stevenson RE, Schwartz CE:  Novel truncating mutations in the Polyglutamine Tract Binding Protein 1 Gene (PGBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.  Am J Hum Genet 74:777-780, 2004.

  • Ruf RG, Xu P-X, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond Jr RM, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf E-M, Schwartz C, Chang EH, Smith RJH, Stratakis CA, Weil D, Petit C, Hildebrandt F. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci 101:8090-8095, 2004.

  • Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox j, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O’Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson RE, Schwartz CE, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet 75:318-324, 2004.

  • Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, Meindl A, Kooy RF. A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). J Med Genet 41:679-683, 2004.

  • Thiffault I, Schwartz CE, Der Kaloustian V, Foulkes WD. Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome. Am J Med Genet A. 130:123-127, 2004.

  • Visootsak J, Rosner B, Dykens E, Schwartz C, Hahn K, White SM, Szeftel R, Graham, Jr JM. Clinical and Behavioral Features of Borjeson-Forssman-Lehmann Syndrome Patients with Mutations in PHF6. J Pediatr 145:819-825, 2004.

  • Longo I, Frints SGM, Fryns J-P, Meloni I, Pescucci C, Ariani F, Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G: A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. J Med Genet 40:11-17 (2003).

  • de Mollerat XJ, Everman DB, Morgan CT, Clarkson KB, Rogers RC, Colby RS, Aylsworth AS, Graham Jr JM, Stevenson RE, Schwartz CE: P63 mutations are not a major cause of non-syndromic split hand/foot malformation. J Med Genet 40:50-61, 2003.

  • Castro NHC, Stocco dos Santos RC, Beçak W, Nelson R, Hane B, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE: Shashi XLMR Syndrome: report of a second family. Am J Med Genet 118A:49-51, 2003.

  • Robertson SP, Twigg SR, Sutherlan-Smith AJ, Biancalan V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, O’Rstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO, Bacino C, Becker K, Clayton-Smith J, Giovannucci-Uzielli M, Goh D, Grange D, Krajewska-Welasek M, Lacombe D, Morris C, Odent S, Savarirayan R, Stratton R, Superti-Furga A, Verloes A, Vigneron J, Wilcox W, Winter R, Young K: Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 33:487-491, 2003.

  • Stocco dos Santos RC, Castro NHC, Holmes AL, Beçak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE: Stocco dos Santos XLMR Syndrome: Clinical elucidation and localization to Xp11.3-Xq21.3. Am J Med Genet 118A:255-259, 2003.

  • Salomons GS, Van Dooren SJM, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, Degrauw TJ, Jakobs C: X-linked creatine transporter defect: An overview. J Inherit Metab Dis 26:309-318, 2003.

  • de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE: A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet 12:1959-1971, 2003.

  • Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs HA, Martinez F, Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE: X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. Eur J Hum Genet, 2003.

  • Lebel RR, May M, Pouls S, Lubs HA, Stevenson RE and Schwartz CE: Nonsyndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clinical Genet 61(2):139-145, 2002.

  • Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE and Schwartz CE: X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the Creatine-Transporter Gene (SLC6A8) located in Xq28. Am J Hum Genet 70(5):1349-1356, 2002.

  • Plenge RM, Stevenson RE, Lubs HA, Schwartz CE and Willard HF: Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am J Hum Genet 71:168-173, 2002.

  • Simensen RJ, Abidi F, Collins JS, Schwartz CE and Stevenson RE: Cognitive function in Coffin-Lowry syndrome. Clin Genet 61:299-304, 2002.

  • Vervoort VS, Beachem MA, Edwards PS, Ladd S, Miller KE, de Mollerat X, Clarkson K, DuPont B, Schwartz CE, Stevenson RE, Boyd E, Srivastava AK: AGTR2 mutations in X-linked mental retardation. Science 296:2401-2403, 2002.

  • Winnepenninckx B, Errijgers V, Reyniers E, De Deyn PP, Abidi FE, Schwartz CE, Kooy RF: Family MRX9 revisited; Further Evidence for Locus Heterogeneity in MRX. Am J Med Genet 112:17-22, 2002.

  • Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A, Schwartz CE: Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. J Med Genet 39:893-899, 2002.

  • Collins JS, Schwartz CE: Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet 71:1251-1252, 2002.

  • Vervoort VS, Smith RJ, O’Brien J, Schroer R, Abbott A, Stevenson RE, Schwartz CE: Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. Eur J Hum Genet 10:757-766, 2002.

  • Stevenson RE, Schwartz CE: Clinical and molecular contributions to the understanding of X-linked mental retardation. Cytogenet Genome Res 99:265-275, 2002.

  • Delaunoy J-P, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz CE and Hanauer A: Mutations in the X-linked RSK2 gene (RSP6KA3) in patients with Coffin-Lowry Syndrome. Hum Mutation 17:103-116, 2001.

  • Tackels-Horne D, Toburen A, Sangiorgi E, Gurrieri F, de Mollerat X, Fischetto R, Causio F, Clarkson K, Stevenson RE, Schwartz CE: Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. Clin Genet 59:28-36, 2001.

  • Schwartz C, Gillessen-Kaebach G, May M, Cappa M, Gorski J, Steindl K and Neri G: Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. Eur. J Human Genet 8:869-874, 2000.

  • Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A and Schwartz CE: Novel mutations in RSK2, the gene for Coffin-Lowry syndrome (CLS). Eur J Hum Genet 7:20-26, 1999.

  • Abidi F, Schwartz CE, Carpenter NJ, Villard L, Fontés M and Curtis M: Letter to the Editor: Carpenter-Waziri syndrome results from a mutation in XNP. Am J Med Genet 85:249-251, 1999.

  • Colleaux L, May M, Belougne J, Lepaslier D, Schwartz CE and Fontes M. Localization of two candidate genes for mental retardation using a YAC physical map on the Xq21.1-21.2 sub-bands. J Med Genet 33:353-357, 1996.

  • Ou CY, Stevenson RE, Brown VK, Schwartz CE, Allen WP, Khoury MJ, Rozen R, Oakley GP, Adams MJ. 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet 63:610-614, 1996.

  • Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Ganofalo G, Nunes ME, Neri G, Schwartz C and Tsipouras P: A Split Hand-Split Foot (SHFM3) gene is located on chromosome 10q24-25. Am J Med Genet 1996 62: 427-436, 1996.

  • Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C and Vetrie D: A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet 14:177-180, 1996.

  • May M, Colleaux L, Murgia A, Aylsworth A, Nussbaum R, Fontes M and Schwartz C. Molecular analysis for four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM. Hum Mol Genet 4:1465-1466, 1995.

  • Vits L, van Camp G, Coucke P, Wilson G, Schrander-Stumpel C, Lyonnet S, Munnich A, Schwartz C and Willems PJ: MASA syndrome is due to mutations in the neural cell adhesive gene L1CAM. Nature Genetics 71: 408-413, 1994.

  • Marinoni J-C, Boyd E, Sherman S and Schwartz C: Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFDl locus in 7q12.3-q22.1. Hum Mol Genet 3:1355-1357, 1994.

  • Pasteris NG, Cadle A, Logie LJ, Porteous M, Schwartz CE, Stevenson RE, Glover TW, Wilroy RS and Gorski JL: Isolation and characterization of the Faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative rho/rac guanine nucleotide exchange factor. Cell 79:669-678, 1994.

  • Schwartz CE: Invited Editorial: XLMR: In pursuit of a gene map. Am J Hum Genet 52:1025-1031 (1993).

  • Schwartz CE, Lubs HA, Arena JF and Stevenson RE: Evidence that distinct regions on the X chromosome have a high concentration of genes causing mental retardation in Biological Psychiatry, Vol 2, (G. Racagni et al, editors), pp. 481-484, 1991.

  • Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO and Stevenson RE: Allan-Herndon syndrome II. Linkage to DNA markers in Xq21. Am J Hum Genet 47:454-458, 1990.

Contact Information

Office (864) 941-8140
Fax (864) 388-1707


  • B.A. (Chemistry), Colgate University, Hamilton, NY
  • M.S. (Biochemistry), Oklahoma State University, OK, 1972
  • Ph.D. (Biochemistry). Vanderbilt University, Nashville, TN, 1978
  • NCI Postdoctoral Fellow, University of Vermont. Dept. of Biochemistry, 1978-1980

Additional Information

Professional Appointments

  • Research Scientist, La Jolla Cancer Research Foundation, La Jolla, CA, 1980-1981
  • Research Associate, Dept. of Human Genetics, University of Utah School of medicine, 1983-1985
  • Director, Molecular Genetics Laboratory, Greenwood Genetic Center, 1985-1995
  • Diplomate, American Board of Medical Genetics (Molecular Genetics), since 1993
  • Director, Center for Molecular Studies, JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 1996-present
  • Director of Research and Head of JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 2004-present
  • Director, Clinical Molecular Genetics; American Board of Medical Genetics; 2006-2010
  • Treasurer, American Board of Medical Genetics; 2007
  • Vice President, American Board of Medical Genetics; 2008
  • President, American Board of Medical Genetics; 2009

Faculty Appointments

  • Adjunct Professor, Dept. of Genetics and Biochemistry, Clemson University, Clemson, SC, 1987-present
  • Assistant Professor of Pediatrics; University of South Carolina; Columbia, SC; 1987-present
  • Adjunct Assistant Professor of Biology; University of South Carolina; Columbia, SC; 1988-present


  • Professional of the Year, SC Chapter of the American Association on Mental Retardation, Nov. 2002
  • Robert Guthrie Award for Advances in Biochemical and Molecular Genetics, American Association of Mental Retardation, May 2003