Revista Cubana de Pediatría
versão On-line ISSN 1561-3119
MENENDEZ, Ibis et al. Frecuencia de mutaciones en el gen de la conexina 26 en pacientes cubanos con sordera neurosensorial severo-profunda. Rev Cubana Pediatr [online]. 2003, vol.75, n.1, pp. 0-0. ISSN 1561-3119.
In order to assess the frequency of neurosensory severe-deep, bilateral and deafness caused by mutations in the Cx26 gene in the environment, 35 patients with history of family and sporadic deafness were studied. Mutations in the gene 26 connexin (Cx26) were searched in an affected individual from each family in all the sporadic or non-processed cause cases (NPD). 2 mutated aleles of the gene were found in 53,3 % (8/15) of the recessive autosomic families and in 40 % (6/15) of the NPD patients. 65 % of the total of mutated aleles presented the 35delG mutation. No mutations were found in the individuals from the autosomic dominant families. In this casuistics, the mutation in the Cx26 gene were responsible for 40 % (14/35) of the cases non related to nuerosensory non-syndromic severe-deep deafness.
Palavras-chave : HEARING LOSS; BILATERAL [congenital]; CONNEXINIS; MUTATION.