864-941-8142 (voice)
864-388-1808
(fax)
abidi@ggc.org |
Staff Scientist
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B.S. (Chemistry Honors), Aligarh Muslim University,
India, 1982
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M.S. (Biochemistry), Aligarh Muslim University, India,
1984
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Ph.D. (Molecular Biology), St. Louis University,
Missouri, 1995
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Postdoctoral Fellow/Research Associate, Center for
Molecular Studies, JC Self Research Institute of Human Genetics,
Greenwood Genetic Center, 1995-2000
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Staff Scientist, Center for Molecular Studies, JC Self
Research Institute of Human Genetics, Greenwood Genetic Center,
2001-present
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Dr. Abidi’s research interests focus on understanding the
causes of X-linked mental retardation 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 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.
At present she is involved with the identification of genes
responsible for X-Linked mental retardation 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:
- 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.
- 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 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 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, 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.
- 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 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.
- 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, 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.
- 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.
- 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.
- 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.
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