title: Molecular defects in Moroccan patients with ataxia-telangiectasia.
abstract: Ataxia-telangiectasia (AT) is a rare autosomal recessive disease, affecting neurologic and immune system. Numerous mutations are described in the ATM gene in several populations. However, in Morocco, few data are available concerning this condition. Our main goal is to determine clinical, immunological, and molecular presentation of Moroccan patients with AT. We screened 27 patients, out of 22 unrelated families, for ATM gene mutations. All our patients showed ataxia, ocular telangiectasia, and immunodeficiency, as well as elevated serum alphafetoprotein levels. Mean age at diagnosis was 5.51 years, and consanguinity rate was 81.8 %. Mean age at onset was 2.02 years, and mean time to diagnosis was 3.68 years. We found 14 different mutations in 19 unrelated families, of which 7 were not reported. Our results showed that c.5644C>T mutation was the most common in our series. However, further studies are required to demonstrate a founder effects on ATM gene in Moroccan patients, who showed mutational heterogeneity otherwise. Our data indicate that direct sequencing of coding exons is sufficient for a high detection rate in ATM in Moroccan population.
authors: Human Molecular Genetic Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco.
authors: L
authors: L
authors: Jeddane
authors: F
authors: F
authors: Ailal
authors: C
authors: C
authors: Dubois-d'Enghien
authors: O
authors: O
authors: Abidi
authors: I
authors: I
authors: Benhsaien
authors: A
authors: A
authors: Kili
authors: S
authors: S
authors: Chaouki
authors: Y
authors: Y
authors: Kriouile
authors: N
authors: N
authors: El Hafidi
authors: H
authors: H
authors: Fadil
authors: R
authors: R
authors: Abilkassem
authors: N
authors: N
authors: Rada
authors: A A
authors: AA
authors: Bousfiha
authors: A
authors: A
authors: Barakat
authors: D
authors: D
authors: Stoppa-Lyonnet
authors: H
authors: H
authors: Bellaoui
mesh_terms: D000483:Alleles; D001260:Ataxia Telangiectasia / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D057210:Delayed Diagnosis; D005006:Ethnicity / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007223:Infant; D018655:Lymphocyte Count; D008297:Male; D009018:Morocco / Q000453:epidemiology; D009154:Mutation; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D007136:Immunoglobulins; D000509:alpha-Fetoproteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins