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Screening for common mutations in four FANCA gene exons in Egyptian Fanconi anemia patients

Salem, Ahmed M.a; El-Bassyouni, Hala T.b; El-Kamah, Ghada Y.b; Zarouk, Waheba A.c; Eid, Maha M.d; Mosaad, Rehab M.c; Sayed, Ahmed A.a; Temtamy, Samia A.b

Middle East Journal of Medical Genetics: January 2014 - Volume 3 - Issue 1 - p 24–30
doi: 10.1097/01.MXE.0000438179.47299.3c
Original articles

Background Fanconi anemia (FA)-A is the most frequent complementation group and is detected in approximately two-thirds of studied FA patients in most countries.

Aim The aim of the study was to screen for the common mutations previously reported in the international literature within exons 27, 34, 38, and 43 of the FANCA gene among Egyptian FA patients.

Patients and methods The study included 24 Egyptian FA patients of unrelated consanguineous pedigrees and diagnosed by positive chromosomal breakage studies using diepoxybutane. Ten healthy unrelated individuals of matching age and sex were included as the control group. Genomic DNA amplification, sequencing of exons 27, 34, and 43 of the FANCA gene, and restriction enzyme analysis for the exon 38 3788–3790del mutation were performed for patients and controls.

Results No mutations were detected within the studied FANCA gene exons.

Conclusion Absence of mutations within the studied exons may denote a different FA molecular pattern in Egyptian patients. Further studies are recommended to define the underlying mutations among Egyptian FA cases as an important step in disease control.

aDepartment of Biochemistry, Faculty of Science, Ain Shams University

Departments of bClinical Genetics

cMolecular Genetics and Enzymology

dHuman Cytogenetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

Correspondence to Prof Ghada Y. El-Kamah, Department of Clinical Genetics, Human Genetics and Genome Research Division, Hereditary Blood Disorders Clinic, National Research Center, Al-Behouth St., 12411 Cairo, Egypt Tel: +20 1001775522; e-mail:

Received March 6, 2013

Accepted June 5, 2013

© 2014 Middle East Journal of Medical Genetics