Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: Results of a screening program
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Date
2008-11-21Les auteurs
Tamayo Fernández, Martha LuciaOlarte Giraldo, Margarita María
Gelvez Moyano, Nancy Yaneth
Gómez, M.
Frías, Jaime L.
Bernal Villegas, Jaime Eduardo
Florez Faillace, Silvia Carolina
Medina Ortega, David Mauricio
Auteur(s) d'entreprise
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
Type
Artículo de revista
ISSN
0165-5876 / 1872-8464 (Electrónico)
Des pages
97-101
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Abstrait
Objective: We conducted a pilot screening program to define the prevalence of non-syndromic deafness and establish the frequency of mutations in the GJB2 gene (Cx26) in a population of children with congenital deafness in Bogotá, Colombia.
Method: From a cohort of 731 children in 8 institutions for the deaf, we identified 322 (44%) with presumed non-syndromic deafness. These were invited to a more detailed evaluation, but 46 chose not to participate. The remaining 276 individuals received a complete ophthalmological evaluation that was normal in 205 (74.3%) and showed salt and pepper retinopathy in 55 (19.9%) and other ocular abnormalities in 16 (5.8%). A comprehensive medical history, and a detailed physical examination were performed in the 205 children with normal ocular exam. Of these, 93 were found to have acquired deafness and/or associated anomalies and 112 (15.3% of the initial 731 children), non-syndromic deafness. The GJB2 gene was sequenced in these 112 individuals.
Results: Based on family history, 59.8% (67/112) of these cases had autosomal recessive non-syndromic sensorineural hearing loss and the remaining 40.2% (45/ 112) were sporadic, without apparent known cause. We identified three mutations in the GJB2 gene: 35delG, S199F, and 167delT, all of which have been previously reported in the literature, the variant M34T, and the polymorphism V27I. S199F was the most frequent mutation (17.9%), followed by 35delG (17.0%) and 167delT (0.4%). The mutations in the GJB2 gene were present in 50.7% of the autosomal recessive group and in 33.3% of the sporadic cases.
Keywords
Congenital hearing lossNon-syndromic deafness
Connexin 26
GJB2 gene
35delG mutation
S199F mutation
167delT mutation
M34T variant
Couverture spatiale (villes)
Bogotá (Colombia)Couverture spatiale
ColombiaLien vers la ressource
https://www-clinicalkey-es.ezproxy.javeriana.edu.co/#!/content/journal/1-s2.0-S0165587608004801Origine
International Journal of Pediatric Otorhinolaryngology; Vol. 73 Núm. 1 (2009)
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