Fatima Abidi, PhD

Technical Director, Molecular Diagnostic Laboratory

Abidi FatimaDr. Abidi’s research interests focus 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 RSK2 gene. She has done extensive work on the XLID 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.

At present she is involved with the identification of genes responsible for X-Linked intellectual disability on chromosome Xp11.4-Xp11.1. Recently Dr. Abidi has identified the mutation in the PQBP1 gene that causes Golabi-Ito-Hall syndrome.

Selected Publications

  • 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

Office (864) 941-8142
Fax (864) 941-8141
This email address is being protected from spambots. You need JavaScript enabled to view it.


  • 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/Research Associate, 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-present