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dc.creatorPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
dc.creatorLattig, María Claudia
dc.creatorGelvez Moyano, Nancy Yaneth
dc.creatorPlaza, Silvia
dc.creatorUribe, JL
dc.creatorSalvatierra, I
dc.creatorBernal Villegas, Jaime E.
dc.creatorTamayo Fernández, Martha Lucia
dc.date.accessioned2019-11-18T18:49:45Z
dc.date.available2019-11-18T18:49:45Z
dc.date.created2008
dc.identifierhttps://search-proquest-com.ezproxy.javeriana.edu.co/docview/195829079/fulltextPDF/BA67DD2FC98142C2PQ/1?accountid=13250
dc.identifier.issn1015-8146spa
dc.identifier.urihttp://hdl.handle.net/10554/45713
dc.languageInglésspa
dc.rightsAttribution-NonCommercial 4.0 International*
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/*
dc.sourceGenetic Counseling; Vol. 19 Núm. 4 (2008)
dc.titleDeafness on the island of Providencia - Colombia : different etiology, different genetic counselingspa
dc.typeinfo:eu-repo/semantics/article
dc.type.spaArtículospa
dc.description.abstractenglishDeafness on the island of Providencia - Colombia: different etiology, different genetic counseling: Providencia is a small island located in the Caribbean Ocean, northwest of Colombia with an unusually high frequency of individuals with hearing loss (5 in 1.000) is present. The hearing lossin the island was characterized as non-syndromic autosomal recessive deafness accounting for 47% (8/17) of the deaf population, Waardenburg Syndrome (deafness associated with pigmentary anomalies) for 29% (5/17), and the remaining 24% (4/17) are cases of sporadic non-syndromic deafness. For appropriate genetic counseling a complete pedigree of families with deaf individuals was constructed. The 35delG mutation in GJB2 gene, which encodes connexin 26 (Cx26), is responsible for the deafness observed in the 8 individuals with autosomal recessive non-syndromic hearing loss. The deaf individuals with Waardenburg Syndrome and the sporadic cases did not have this mutation. Therefore, we present here an atypical case of an isolated community with at least two different genetic etiologies for deafness: non-syndromic genetic deafness caused by the 35delG mutation in the GJB2 gene and deafness associated with Waardenburg Syndrome not related to GJB2. In a small and isolated population, it is feasible to assume that the deafness is caused by the same factor, however, Providencia is an atypical case. Therefore, it is extremely important to define the exact etiology of deafness in each case, since different etiologies require different genetic counseling.spa
dc.subject.subjectenglishProvidencia Islandspa
dc.subject.subjectenglishColombiaspa
dc.subject.subjectenglishNon-syndromic recessive deafnessspa
dc.subject.subjectenglishWaardenburg syndromespa
dc.subject.subjectenglishGJB2spa
dc.subject.subjectenglishGenetic counselingspa
dc.subject.subjectenglishEtiology of deafnessspa
dc.format.soportePapel / Electrónicospa
dc.description.paginas403-412spa
dc.coverage.spatiaAreaColombiaspa
dc.coverage.spatialMunicipiosProvidencia (San Andrés, Colombia)spa
dc.description.cuartilScopusQ4spa
dc.description.cuartilWosQ4spa
dc.type.hasversioninfo:eu-repo/semantics/draft


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Attribution-NonCommercial 4.0 International
Except where otherwise noted, this item's license is described as Attribution-NonCommercial 4.0 International