Professional Documents
Culture Documents
Medical genetic services are well-established sub- Multifactorial birth defects: Congenital heart disease was
specialties within the Pediatric Department at Hamad diagnosed in 610 of 49,887 live-born children between
Medical Corporation (HMC). In addition, there are 1984 and 1994, making an incidence of 12.23:1000 live
cytogenetic and molecular diagnostic laboratories births (Robida et al., 1997). Congenital heart diseases
within HMC performing wide range of cytogenetic were detected in 44 cases of 97 of Down syndrome
Molecular studies of 15 affected individuals from 10 Sandhoff disease (OMIM 268800): A patient was
families have identified a p.Ser81Arg encoding mutation reported with a rare and unusual presentation of
in SLC2A10 gene (Faiyaz-Ul-Haque et al., 2008). intrauterine growth retardation, premature delivery, and
From the near-by Saudi Arabia, two unrelated families bronchopulmonary dysplasia. The clue for diagnosis was
with similar phenotype have been found to have a the fundoscopy examination (Abdul Wahab et al., 2002a).
novel missense mutation (p.Arg105Cys) and a recurrent
mutation (p.Ser81Arg) in the SLC2A10 gene (Faiyaz- Primary ciliary dyskinesia (OMIM 244400): Two cases
Ul-Haque et al., 2009). of primary ciliary dyskinesia (PCD) in two siblings were
References
associated with congenital heart disease. Saudi Med J. 2006c;
Abdel Rahman H, Abdul Wahab A, Abdel Rahman MO, 27(9):1431-3.
Mostafa OA. Faecal elastase-1 concentration in cystic fibrosis Abdul Wahab A, Janahi IA, El-Shafie SS. Achromobacter
patients with CFTR I1234V mutation. Acta Paediatr. 2006; xylosoxidans isolated from the sputum of a patient with cystic
95(9):1066-9. fibrosis mutation I1234V with Pseudomonas aeruginosa.
Abdul Wahab A, Al Thani G, Dawod ST, Kambouris M, Al Saudi Med J. 2004b; 25(6):810-1.
Hamed M. Heterogeneity of the cystic fibrosis phenotype in Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Ul Haque MF,
a large kindred family in Qatar with cystic fibrosis mutation Teebi AS. A new type of Ehlers-Danlos syndrome associated
(I1234V). J Trop Pediatr. 2001a; 47(2):110-2. with tortuous systemic arteries in a large kindred from Qatar.
Abdul Wahab A, Al Thani G, Dawod ST, Kambouris M, Al Acta Paediatr. 2003; 92(4):456-62.
Hamed M. Rare CFTR mutation 1525-1G>A in a Pakistani Abdul Wahab A, Janahi IA, Hebi S, Al-Hamed M, Kambouris
patient. J Trop Pediatr. 2004a; 50(2):120-2. M. Cystic fibrosis in a child from Syria. Ann Trop Paediatr.
Abdul Wahab A, Bener A, Sandridge AL, Hoffmann GF. 2002b; 22(1):53-5.
The pattern of Down syndrome among children in Qatar: a Abdul Wahab A, Janahi IA, Marafia MM, El-Shafie S.
population-based study. Birth Defects Res A Clin Mol Teratol. Microbiological identification in cystic fibrosis patients with
2006b; 76(8):609-12. CFTR I1234V mutation. J Trop Pediatr. 2004d; 50(4):229-33.
Abdul Wahab A, Bener A, Teebi AS. The incidence patterns of Abdul Wahab A, Janahi IA, Marafia MM. Pseudo-Bartter’s
Down syndrome in Qatar. Clin Genet. 2006a; 69(4):360-2. syndrome in an Egyptian infant with cystic fibrosis mutation
Abdul Wahab A, Bessisso MS, Elsaid MF. Sandhoff disease N1303K. J Trop Pediatr. 2004c; 50(4):242-4.
(GM2 Gangliosidoses) in a premature patient with Abdul Wahab A, Rosenthal M, Dawod ST. Cilial Aplasia of
bronchopulmonary dysplasia. Saudi Med J. 2002a; 23(5):602- the Respiratory Tract-The First Report in a Qatari Family.
5. Emirates Med J. 2001b; 19:175-177.
Abdul Wahab A, Dawod ST, al Thani G. Cystic fibrosis in a large Abdul Wahab A. Cystic fibrosis mutation I1234V in a Qatari
kindred family in Qatar. Ann Trop Paediatr. 2000; 20(3):203- lady. J Trop Pediatr. 2003; 49(1):54-5.
7. Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S,
Abdul Wahab A, Janahi IA, Al-Rawi F, Mostafa OA. Diagnostic Al-Salem M, El-Shanti H. A homozygous mutation in
role of pediatric flexible bronchoscopy in Down’s syndrome ADAMTSL4 causes autosomal-recessive isolated ectopia