Molecular genetics applied to clinical practice: the Cx26 hearing impairment.
Br J Audiol
; 33(5): 291-5, 1999 Oct.
Article
en En
| MEDLINE
| ID: mdl-10890143
Mutations in the Cx26/GJB2 gene account for a large proportion of pre-lingual hearing impairment with a prevalence up to 50% in autosomal recessive cases and a still undefined prevalence in sporadic cases. Ninety-four subjects affected by non-syndromal sensorineural hearing impairment (NSHI) were enrolled in the study. The patients had either a family history of childhood hearing deficit or represented sporadic cases. The risk of an acquired cause of the deficit has been carefully excluded. Audiological characteristics were investigated. Cx26 mutations were found in 50% of subjects. Seventy-three per cent of mutations in this gene were 35delG, with significant geographical variations. In 7% of the putative Cx26 alleles no mutations were detected either in the coding region or in the non-coding exon 1. Cx26 hearing impairment involves all frequencies, is of variable severity, and is very rarely progressive and most frequently symmetrical between the two ears. The high occurrence of this type of pre-lingual hearing impairment argues for modification of the protocols used to investigate the aetiology of childhood hearing impairment. Early screening for Cx26 mutations in all patients with non-syndromal familial and sporadic permanent childhood hearing impairment seems justified.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Expresión Génica
/
Mutación Puntual
/
Pérdida Auditiva Sensorineural
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
Idioma:
En
Revista:
Br J Audiol
Año:
1999
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Reino Unido