title: Deafness on the island of Providencia - Colombia: different etiology, different genetic counseling.
abstract: 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 loss in 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.
authors.affiliation: Instituto de Genética Humana- Programa de Estudios Genéticos en Enfermedades Visuales y Auditivas, Universidad Javeriana, Bogotá, Colombia.
authors.forename: M C
authors.initials: MC
authors.lastname: Lattig
authors.forename: N
authors.initials: N
authors.lastname: Gelvez
authors.forename: S L
authors.initials: SL
authors.lastname: Plaza
authors.forename: G
authors.initials: G
authors.lastname: Tamayo
authors.forename: J I
authors.initials: JI
authors.lastname: Uribe
authors.forename: I
authors.initials: I
authors.lastname: Salvatierra
authors.forename: J E
authors.initials: JE
authors.lastname: Bernal
authors.forename: M L
authors.initials: ML
authors.lastname: Tamayo
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003105:Colombia; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D018703:Founder Effect; D005788:Gene Pool; D005808:Genes, Recessive / Q000235:genetics*; D005817:Genetic Counseling; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26