Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: Results of a screening program

Tamayo Fernández, Martha Lucia; Olarte Giraldo, Margarita María; Gelvez Moyano, Nancy Yaneth; Gómez, M.; Frías, Jaime L.; Bernal Villegas, Jaime Eduardo; Florez Faillace, Silvia Carolina; Medina Ortega, David Mauricio

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dc.rights.licence	Atribución-NoComercial 4.0 Internacional	*
dc.contributor.author	Tamayo Fernández, Martha Lucia
dc.contributor.author	Olarte Giraldo, Margarita María
dc.contributor.author	Gelvez Moyano, Nancy Yaneth
dc.contributor.author	Gómez, M.
dc.contributor.author	Frías, Jaime L.
dc.contributor.author	Bernal Villegas, Jaime Eduardo
dc.contributor.author	Florez Faillace, Silvia Carolina
dc.contributor.author	Medina Ortega, David Mauricio
dc.coverage.spatial	Colombia	spa
dc.date.accessioned	2019-12-03T13:45:49Z
dc.date.accessioned	2020-04-15T13:30:29Z
dc.date.available	2019-12-03T13:45:49Z
dc.date.available	2020-04-15T13:30:29Z
dc.date.created	2008-11-21
dc.identifier	https://www-clinicalkey-es.ezproxy.javeriana.edu.co/#!/content/journal/1-s2.0-S0165587608004801	spa
dc.identifier.issn	0165-5876 / 1872-8464 (Electrónico)	spa
dc.identifier.uri	http://hdl.handle.net/10554/46007
dc.format	PDF	spa
dc.format.mimetype	application/pdf	spa
dc.language	spa	spa
dc.rights.uri	http://creativecommons.org/licenses/by-nc/4.0/	*
dc.source	International Journal of Pediatric Otorhinolaryngology; Vol. 73 Núm. 1 (2009)	spa
dc.title	Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: Results of a screening program	spa
dc.type	info:eu-repo/semantics/article
dc.type.hasversion	http://purl.org/coar/version/c_ab4af688f83e57aa
dc.description.quartilewos	Q4	spa
dc.description.quartilescopus	Q2	spa
dc.coverage.city	Bogotá (Colombia)	spa
dc.identifier.doi	https://doi.org/10.1016/j.ijporl.2008.10.001	spa
dc.description.paginas	97-101	spa
dc.format.soporte	Papel / Electrónico	spa
dc.subject.keyword	Congenital hearing loss	spa
dc.subject.keyword	Non-syndromic deafness	spa
dc.subject.keyword	Connexin 26	spa
dc.subject.keyword	GJB2 gene	spa
dc.subject.keyword	35delG mutation	spa
dc.subject.keyword	S199F mutation	spa
dc.subject.keyword	167delT mutation	spa
dc.subject.keyword	M34T variant	spa
dc.description.abstractenglish	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.	spa
dc.type.local	Artículo de revista	spa
dc.contributor.corporatename	Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana