Perfil audiológico e genético de pacientes com perda auditiva sensorioneural não sindrônica atendidos no Hospital das Clínicas da Faculdade de Medicina de Botucatu-Universidade Estadual Paulista
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Data
2011-12-20
Autores
Moreira, Danielle Tavares Oliveira Campos [UNESP]
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Editor
Universidade Estadual Paulista (Unesp)
Resumo
A deficiência auditiva é o déficit sensorial mais comum e tem dentre as suas diferentes etiologias as alterações genéticas. Mutações na conexina 26 são comuns, e uma mutação específica no gene GJB2 é a 35delG, a mais encontrada na deficiência auditiva hereditária não sindrômica. Investigar a ocorrência da mutação 35delG, em pacientes com deficiência auditiva sensorioneural não sindrômica (DASNNS) e de seus parentes em primeiro grau com o mesmo tipo de disacusia assim como naqueles com audição dentro dos padrões de normalidade. Participaram do estudo 72 indivíduos, atendidos no Serviço de Saúde Auditiva do Centro de Reabilitação dos Distúrbios da Audição e Comunicação (CERDAC), do Hospital das Clínicas da Faculdade de Medicina de Botucatu‐ UNESP. Estes indivíduos foram divididos em três grupos ‐ Grupo A: 58 casos com DASNNS; Grupo B: 09 casos (parentes em primeiro grau do grupo A) com DASNNS e Grupo C: 05 indivíduos parentes em primeiro grau do grupo A com audição dentro dos padrões de normalidade. Todos foram submetidos à avaliação audiológica e investigação genética para o rastreamento da mutação 35delG. 67 casos apresentaram deficiência auditiva sensorioneural não sindrômica (DASNNS) ‐ Grupos A e B, e 05 indivíduos com audição dentro dos padrões de normalidade (Grupo C). Quanto às mutações 35delG encontradas, quatro foram mutações em heterozigose, três delas encontradas em uma mesma família: pai (38anos), mãe (28 anos) e filho (05 anos) afetados. Nesta família, os pais eram ouvintes normais e o filho apresentou DASNNS pré‐lingual de grau grave bilateral. A outra mutação em heterozigose foi encontrada em paciente do sexo feminino, 38 anos, com DASNNS pré‐lingual de grau moderado bilateral. A única mutação em homozigose foi em um paciente do sexo masculino...
Hearing impairment is the most common sensory deficit and has among its different etiologies the genetic disorders. Mutations in connexin 26 are common and a specific mutation in the gene GJB2 is the 35delG, the most commonly found in hereditary non‐syndromic deafness. To investigate the occurrence of the 35delG mutation in patients with non‐syndromic sensorineural hearing loss (NS‐SNHL) and their first‐degree relatives with the same type of hearing loss as well as those with normal hearing. The study included 72 patients from the Division of Hearing Health of the Hearing and Communication Disorders Rehabilitation Center (CERDAC), Botucatu Medical School Hospital, UNESP. These individuals were divided into three groups ‐ Group A: 58 cases with NS‐SNHL, Group B: 09 cases (first‐degree relatives of group A) with NS‐SNHL and Group C: 05 cases with normal hearing, first‐degree relatives of patients from group A. All patients were submitted to audiologic evaluation and genetic testing of the 35delG mutation. 67 patients had non‐syndromic sensorineural hearing loss (NS‐SNHL) ‐ Groups A and B, and 05 individuals had normal hearing (Group C). As for 35delG mutations found, four were heterozygous mutations, three of them found in the same family: father (38 years old), mother (28 years old) and son (05 years old) affected. In this family, the parents had normal hearing and the child had severe prelingual NS‐SNHL. The other heterozygous mutation was found in a female patient, 38 years old, with bilateral moderate pre‐lingual NS‐SNHL. A single homozygous mutation was found in a male patient, 20 years old, with a severe pre‐lingual SNHL in his right ear and a profound SNHL in his left ear. The study of the 35delG mutation was found to be easy to perform and inexpensive; it was possible to determine the... (Complete abstract click electronic access below)
Hearing impairment is the most common sensory deficit and has among its different etiologies the genetic disorders. Mutations in connexin 26 are common and a specific mutation in the gene GJB2 is the 35delG, the most commonly found in hereditary non‐syndromic deafness. To investigate the occurrence of the 35delG mutation in patients with non‐syndromic sensorineural hearing loss (NS‐SNHL) and their first‐degree relatives with the same type of hearing loss as well as those with normal hearing. The study included 72 patients from the Division of Hearing Health of the Hearing and Communication Disorders Rehabilitation Center (CERDAC), Botucatu Medical School Hospital, UNESP. These individuals were divided into three groups ‐ Group A: 58 cases with NS‐SNHL, Group B: 09 cases (first‐degree relatives of group A) with NS‐SNHL and Group C: 05 cases with normal hearing, first‐degree relatives of patients from group A. All patients were submitted to audiologic evaluation and genetic testing of the 35delG mutation. 67 patients had non‐syndromic sensorineural hearing loss (NS‐SNHL) ‐ Groups A and B, and 05 individuals had normal hearing (Group C). As for 35delG mutations found, four were heterozygous mutations, three of them found in the same family: father (38 years old), mother (28 years old) and son (05 years old) affected. In this family, the parents had normal hearing and the child had severe prelingual NS‐SNHL. The other heterozygous mutation was found in a female patient, 38 years old, with bilateral moderate pre‐lingual NS‐SNHL. A single homozygous mutation was found in a male patient, 20 years old, with a severe pre‐lingual SNHL in his right ear and a profound SNHL in his left ear. The study of the 35delG mutation was found to be easy to perform and inexpensive; it was possible to determine the... (Complete abstract click electronic access below)
Descrição
Palavras-chave
Fonoaudiologia, Deficientes auditivos, Surdez - Diagnóstico, Non-syndromic hearing loss
Como citar
MOREIRA, Danielle Tavares Oliveira Campos. Perfil audiológico e genético de pacientes com perda auditiva sensorioneural não sindrônica atendidos no Hospital das Clínicas da Faculdade de Medicina de Botucatu-Universidade Estadual Paulista. 2011. 100 f. Dissertação (mestrado) - Universidade Estadual Paulista, Faculdade de Medicina de Botucatu, 2011.