%0 Journal Article
%T Estudo de muta  es no gene GJB2 e dele  o delGJB6-D13S1830 em indiv赤duos com surdez n o sindr mica da regi o Amaz nica A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region
%A Luciana Santos Serrˋo de Castro
%A Anderson Nonato do Rosario Marinho
%A Elzemar Martins Ribeiro Rodrigues
%A Giorgio Christie Tavares Marques
%J Brazilian Journal of Otorhinolaryngology
%D 2013
%I Associa??o Brasileira de Otorrinolaringologia e Cirurgia Cervicofacial
%X A defici那ncia auditiva afeta cerca de 1 em cada 1000 rec谷m-nascidos. Muta  es no gene da conexina 26 (GJB2) s o as causas mais frequentes de surdez n o sindr mica em diferentes popula  es e 谷 sabido que a muta  o delGJB6-D13S1830 em DFNB30 谷 causadora de surdez neurossensorial. Muitos estudos descrevem o envolvimento de muta  es no gene GJB2 com a defici那ncia auditiva em diferentes popula  es. Entretanto, existe pouca informa  o sobre a surdez gen谷tica no Brasil, especialmente na regi o Amaz nica. OBJETIVO: Determinar a preval那ncia de muta  es no gene GJB2 e da muta  o delGJB6-D13S1830 em 77 casos espor芍dicos de surdez n o sindr micas. M谷TODO: A regi o codificante do gene GJB2 foi sequenciada e a PCR foi realizada para detectar a muta  o delGJB6-D13S1830. RESULTADOS: O alelo 35delG foi encontrado em 9% dos pacientes (7/77). As muta  es M34T e V95M foram detectadas em dois distintos pacientes heterozigotos. A muta  o n o patog那nica V27I foi detectada em 28,6% (22/77). N o foi detectada a muta  o delGJB6-D13S1830 em nenhum paciente estudado. CONCLUS O: Alelos mutantes no gene GJB2 foram observados em 40% (31/77) da amostra. Variantes patog那nicas foram detectadas em apenas 12% (9/77). Mais estudos s o necess芍rios para elucidar causas gen谷ticas de defici那ncia auditiva em popula  es miscigenadas. Hearing impairment affects about 1 in 1000 newborns. Mutations in the connexin 26 (GJB2) gene rank among the most frequent causes of non-syndromic deafness in different populations, while delGJB6-D13S1830 mutation located in the DFNB30 locus is known to cause sensorineural hearing loss. Despite the many studies on the involvement of GJB2 mutations in hearing impairment in different populations, there is little information on genetic deafness in Brazil, especially in the Amazon region. OBJECTIVE: To determine the prevalence of GJB2 mutations and delGJB6-D13S1830 in 77 sporadic non-syndromic deaf patients. METHOD: The coding region of the GJB2 gene was sequenced and polymerase chain reaction was performed to detect the delGJB6-D13S1830 mutation. RESULTS: Mutant allele 35delG was found in 9% of the patients (7/77). Mutations M34T and V95M were detected in two distinct heterozygous patients. Non-pathogenic mutation V27I was detected in 28.6% of the patients (22/77). None of the deaf patients carried the delGJB6-D13S1830 mutation. CONCLUSION: Mutant alleles on gene GJB2 were observed in 40% (31/77) of the subjects in the sample. Pathogenic variants were detected in only 12% (9/77) of the individuals. More studies are required to elucidate the genetic causes of hearing lo
%K aconselhamento gen谷tico
%K conexinas
%K surdez
%K connexins
%K deafness
%K genetic counseling
%U http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942013000100016