Document Detail

Molecular Defects in Moroccan Patients with Ataxia-Telangiectasia.
MedLine Citation:
PMID:  23322442     Owner:  NLM     Status:  Publisher    
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.
L Jeddane; F Ailal; C Dubois-d'Enghien; O Abidi; I Benhsaien; A Kili; S Chaouki; Y Kriouile; N El Hafidi; H Fadil; R Abilkassem; N Rada; A A Bousfiha; A Barakat; D Stoppa-Lyonnet; H Bellaoui
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-16
Journal Detail:
Title:  Neuromolecular medicine     Volume:  -     ISSN:  1559-1174     ISO Abbreviation:  Neuromolecular Med.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101135365     Medline TA:  Neuromolecular Med     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Human Molecular Genetic Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco.
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