Barbara DuPont, PhD

Senior Director, Cytogenetics Laboratory

(Associate Clinical Laboratory Geneticist)

Dr. DuPont came to the GGC in 1999 as Director of the Cytogenetics Laboratory. This laboratory currently conducts over 4,000 clinical tests and 1,000 research tests per year and has 16 technologists. Her major areas of research interest include subtelomere rearrangements, phenotype/genotype mapping of chromosome rearrangements and deletion syndromes, the mechanisms of chromosome rearrangements, as well as, chromosome alterations in cancer. Her laboratory is currently working on studying the telomeres of a large population of South Carolina patients with intellectual disability of unknown etiology and dysmorphic features. She is also working in collaboration with Dr. Anand Srivastava and Dr. Charles Schwartz on genotype/phenotype mapping of patients with apparently balanced chromosome rearrangements.

Dr. DuPont is board certified by the American Board of Medical Genetics (1996) in clinical cytogenetics. She is a member of the American Society of Human Genetics, and a fellow of the American College of Medical Genetics. She is also a reviewer for a number of scientific journals including American Journal of Medical Genetics and Cytogenetics and Cell Genetics.

Selected Publications

  • Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). J Med Genet 2011 Nov;48(11):761-6.

  • Dukes-Rimsky L, Guzauskas GF, Holden KR, Griggs R, Ladd S, Del Carmen Montoya M, Dupont BR, Srivastava AK. Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature. Am J Med Genet A. 2011 Sep;155(9):2146-53.

  • 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]

  • Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS. Growth in Phelan-McDermid syndrome. Am J Med Genet A. 2011 Sep;155A(9):2324-6.

  • Edens AC, Lyons MJ, Duron RM, Dupont BR, Holden KR. Autism in two females with duplications involving Xp11.22-p11.23. Dev Med Child Neurol. 2011 May;53(5):463-6.

  • 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;155A(5):1109-14.

  • Vieira GH, Rodriguez JD, Boy R, de Paiva IS, DuPont BR, Moretti-Ferreira D, Srivastava AK. Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome. Am J Med Genet A. 2011 May;155A(5):988-92.

  • Filho AB, Souza J, Faucz FR, Sotomaior VS, DuPont B, Bartel F, Rodriguez R, Schwartz CE, Skinner C, Alliman S, Raskin S. Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. Am J Med Genet A. 2011 May;155A(5):1152-6.

  • Bhat SS, Schmidt KR, Ladd S, Kim KC, Schwartz CE, Simensen RJ, DuPont BR, Stevenson RE, Srivastava AK. (2006) Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. Cytogenet Genome Res 112(1-2):170-175, 2006.

  • Risheg H, Cohn D, Lee K, Skinner S, Friez MJ, DuPont BR. Familial subtelomere rearrangement determined via multiplex ligation dependent probe amplification (MLPA) and fluorescent in-situ hybridization (FISH). Proc Greenwood Genet Center 24:12-18, 2005.

  • Lee J, DuPont BR, and Rogers RC. Partial trisomy 13q and trigonocephaly. Proc Greenwood Genet Center 24:4-8, 2005.

  • Hunter AGW, DuPont BR, McLaughlin M, Hinton L, Baker E, Ades L, Haan E, Schwartz CE. The Hunter-McAlpine syndrome results from duplication 5q35-qter. Clin Genet 67(1):53-60, 2005.

  • Anderson EM, DuPont BR, Saul RA, Rogers RC.  Terminal 3q29 deletion in a male with developmental delay. Proc Greenwood Genet Center 23:17-19, 2004.

  • Ward A, DuPont BR, Colby R.  Interstitial duplication of 1p (p13p21) in a female. Proc Greenwood Genet Center 23:6-9, 2004.

  • Seaver LH, Everman DB, DuPont BR.  Hemifacial microsomia and imperforate anus due to supernumerary marker chromosome 22. Proc Greenwood Genet Center 23:3-5, 2004.

  • Schmidt MA, DuPont BR, Rogers RC. Mother and Daughter with an Interstitial Deletion of 13q. Proc Greenwood Genet Center 22:8-12, 2003.

  • Saner KJ, Welter BH, Zhang F, Hansen E, DuPont BR, Wei Y, Price TM. Cloning and Expression of a Novel, Truncated, Progesterone Receptor. Mol Cell Endo 200:155-163, 2003.

  • DuPont BR, Stapleton GA, Chapman S, Michaelis RC.  Prenatal Diagnosis of Jacobsen Syndrome. Proc Greenwood Genet Center 22:13-16, 2003.

  • 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.

  • Edmonson AM, Mayfield DK, Vervoort V, DuPont BR, Argyropoulos G.  Characterization of a human import component of the mitochondrial outer membrane, TOMM70A. Cell Commun Adhes 9(1):15-27, 2002.

  • Vervoort VS, Beachem M, Edwards PS, Ladd S, Mille, KE, de Mollerat X, Clarkson K, DuPont BR, Schwartz CE, Stevenson RE, Boyd E, Srivastava AK.  AGTR2 Mutations in X-linked Mental Retardation. Science 296:2401-2403, 2002.

  • Collins JS, Olson RL, DuPont BR, Best RG, Wolff DJ, Stevenson RE. Prevalence of Aneuploidies in South Carolina in the 1990's. Genet Med 4:131-135, 2002. Hu C-C, Hart TC, DuPont BR, Chen JJ, Jiang H, Sun X, Qian Q, Zhang CH, Wright T, Simmer JP. Cloning Human Enamelin cDNA, Chromosomal Localization and Analysis of Expression during Tooth Development. J Dental Res 79:912-919, 2000.

  • Schaub R, DuPont BR, Roodman GD, Leach RJ, Reddy SV.  Assignment of OSTF1 to human chromosome bands 12q24.1-q24.2 by in situ hybridization. Cytogenet Cell Genet 88:87-90, 2000.

  • DuPont BR, Hu C-C, Reveles X, Simmer JP. Assignment of Serine Protease 17 (PRSS17) to human chromosome band(s) 19q13.3-q13.4 by in situ hybridization. Cytogenet Cell Genet 86:212-213, 1999.

  • Cody JD, Ghidoni PD, DuPont BR, Hale DE, Hilsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub RL, Leach RL, Kaye CI.  Congenital Anomalies and Anthropometry of 42 Individuals with Deletions of Chromosome 18q. Am J Med Genet 85:455-462, 1999.

  • Yao Y-L, DuPont BR, Ghosh S, Fang Y, Leach RJ, Seto E. Cloning, Chromosomal Localization, and Promotor Analysis of the Human Transcription Factor YY1. Nucleic Acids Res 26:3776-3783, 1998.

  • Brkanac Z, Cody JD, Leach RJ, DuPont BR.  Identification of Cryptic Chromosome Rearrangements in Patients with 18q-Deletion Syndrome. Am J Hum Genet 62:1500-1506, 1998.

Contact Information

Office (864) 941-8139
Fax (864) 941-8141
dupont@ggc.org

Education

  • Ph.D. Zoology/Human Genetics, University of Texas, Austin  1989
  • Fellow (NIH), Lawrence Livermore National Laboratory, Livermore, CA  1989-91
  • Fellow (Clinical Cytogenetics), University of Texas Health Science Center, San Antonio  1991-94
  • Asst. Professor, Depts. Cellular and Structural Biology and Pediatrics, University of Texas Health Science Center, San Antonio  1996-98
  • Asst. Professor and Asst. Director, Cytogenetics Laboratory, Depts. of Pathology and Pediatrics, University of Texas Health Science Center, San Antonio  1998–99
  • Director, Cytogenetics Laboratory, Greenwood Genetic Center  1999-2013
  • Senior Director, Cytogenetics Laboratory, Greenwood Genetic Center 2013-present