Fatima Abidi, PhD

Technical Director, Molecular Diagnostic Laboratory

Fatima Abidi 2Dr. Abidi came to the Greenwood Genetic Center (GGC) in 1995 as a Postdoctoral Fellow. She joined the Molecular Diagnostic Laboratory as a Clinical Molecular Fellow in 2012. After completing her fellowship in 2014, she assumed the position of Clinical Molecular Specialist. She is now the Technical Director of the Molecular Diagnostic Lab. Her primary responsibilities include reviewing and interpreting molecular diagnostic tests, clinical report writing, and participate in the development of new test technologies and procedures.

Dr. Abidi's past research interests focused on understanding the causes of X-linked Intellectual Disability (XLID) and birth defects. She has had extensive experience in long-range genome mapping, molecular cloning, mutation analyses and the characterization of gene structure and function.

Her research on the Coffin-Lowry syndrome has led to the identification of over 20 different mutations in the RPS6KA3 (RSK2) gene. She has done extensive work on the XLMR hypotonic facies syndrome (ATRX syndrome) where mutation analyses of the XNP gene have led to the identification of several different mutations that causes this syndrome. This work has also shown that mutations in the XNP gene cause a number of other similar syndromes such as Carpenter-Waziri syndrome, Holmes-Gang syndrome and Chudley-Lowry syndrome. She was also involved with the identification of genes responsible for XLID on chromosome Xp11.4-Xp11.1, which has led to the identification of the mutation in the PQBP1 gene that causes Golabi-Ito-Hall syndrome.

Selected publications

  • Friez MJ, Brooks SS, Stevenson RE, Field M, Basehore MJ, Adès LC, Sebold C, McGee S, Saxon S, Skinner C, Craig ME, Murray L, Simensen RJ, Yap YY, Shaw MA, Gardner A, Corbett M, Kumar R, Bosshard M, van Loon B, Tarpey PS, Abidi F, Gecz J, Schwartz CE. HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. BMJ Open. 6(4):e009537. doi: 10.1136/bmjopen-2015-009537. PMID: 2713, 2016.
  • Rogers RC and Abidi FE. Coffin-Lowry Syndrome. July 16, 2002 [Last update: March 27, 2014]. In: Pagon RA, et al., editors. GeneReviews.® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  • Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE. Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). Clin Genet. doi: 10.1111/cge.12420, 2014.
  • Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz J, Jolly LA. Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. Am J Hum Genet. 94:470-8, 2014.
  • 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. 28;6:1, 2013.
  • Simensen RJ, Rogers RC, Collins JS, Abidi FE, Schwartz CE, Stevenson RE. Short-Term Memory Deficits in Carrier Females with KDM5C Mutations. Genetic Counseling. 23:31-40, 2012.
  • Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, Skinner C, Stevenson RE, Turner G, Field M, Hackett A, Schwartz CE, Gecz J, Stratton MR, Raymond FL. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet. 87:173-88, 2010.
  • Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. J. Nat Genet. 42:486-8, 2010.
  • 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. 18(5):544- 52, 2010. Erratum in: Eur J Hum Genet. 18:552, 2010.
  • Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray C, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer APM, van Bokhoven H, Esch HV, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton M. A systematic, large-scale resequencing screen of the X chromosome coding exons in mental retardation. Nat Genet. 41:535-43, 2009.
  • Abidi FE, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE. Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. J Med Genet. 45:787-793, 2008.
  • Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey P et al., Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet. 82:432-443, 2008.
  • Marco EJ, Abidi FE, Bristow J, Dean WB, Cotter P, Jeremy RJ, Schwartz CE, Sherr EH. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. J Med Genet. 45:100-105, 2008.
  • 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.
  • Zhang L, Jie C, Obie C, Abidi F, Schwartz CE, Stevenson RE, Valle D, Wang T. X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation. Genome Res. 17:641-648, 2007.
  • Kesler SR, Simensen RJ, Voeller K, Abidi F, Stevenson RE, Schwartz CE, Reiss AL. Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin- Lowry syndrome. Neurogenetics 8:143-147, 2007.
  • 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.
  • 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.
  • Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BCJ, Schwartz CE: Renpenning syndrome comes into focus. Am J Med Genet 134A:415-421, 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.
  • 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.
  • Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum Genet 74:777-780, 2004.
  • Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE. A Novel 2-bp deletion in the TM4SF2 is associated with MRX58. J Med Genet 39:430-433, 2002.
  • Stevenson RE, Abidi F, Schwartz CE, Lubs HA, Holmes LB. Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. Am J Med Genet 94:383-385, 2000.
  • Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A, Schwartz CE. Novel mutations in RSK2, the candidate gene for the Coffin-Lowry syndrome (CLS).Eur J Hum Genet 7:20-26, 1999.
  • Abidi F, Hall BD, Cadle RG, Feldman J, Lubs HA, Outzs LV, Arena J, Stevenson RE, Schwartz CE. X-Linked Mental Retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21. Am J Med Genet 85:223-229, 1999.
  • Abidi F, Carpenter NJ, Villard L, Curtis M, Fontes M, Schwartz CE. The Carpenter-Waziri syndrome results from a mutation in XNP. Am J Med Genet 85:249-251, 1999.
  • Abidi FE, Roh H, Keath EJ. Identification and Characterization of a Phase-Specific, Nuclear DNA Binding Protein from the Dimorphic Pathogenic Fungus Histoplasma capsulatum. Infect and Immunity 66:3867-3873, 1998.
  • Abidi FE, Wada M, Little RD, Schlessinger D. Yeast artificial chromosome containing human Xq24-Xq28: Library construction and representation of probe sequences. Genomics 7:363-376, 1990.

Contact Information

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  • B.S. (Chemistry Honors), Aligarh Muslim University, India, 1982
  • M.S. (Biochemistry), Aligarh Muslim University, India, 1984
  • Ph.D. (Molecular Biology), St. Louis University, Missouri, 1995
  • Postdoctoral Fellow, Center for Molecular Studies, JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 1995-2000
  • Staff Scientist, Center for Molecular Studies, JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 2001-2012
  • Fellow, Molecular Diagnostic Laboratory, Greenwood Genetic Center, 2012-2014
  • Clinical Molecular Specialist, Greenwood Genetic Center, 2014-2016
  • Technical Director, Greenwood Genetic Center, 2016-present