The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
;
(24): 1744-1747, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-747642
ABSTRACT
OBJECTIVE@#Mutations in the GJB2 are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. A few mutations in GJB2 have also been reported to cause dominant nonsyndromic or syndromic hearing loss. This study analysised the GJB2 dominant mutation in Chinese deafness.@*METHOD@#1641 patients as GJB2-related hearing loss were enrolled, summarized the type of dominant mutaion, analyzed the hearing level and other systerm lesion.@*RESULT@#Nine probands with severe-profound hearing loss were diagnosed as GJB2 domiant mutation (R75W,G130V, R143Q,p. R184Q). And one patient with R75W mutation was diagosed as hearing loss and palmoplantar keratoderma.@*CONCLUSION@#GJB2 dominant mutation can cause severe-to-profound bilateral sensorineural hearing impairment and not common with syndromic hearing loss in Chinese deafness.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Ceratodermia Palmar e Plantar
/
Conexinas
/
Surdez
/
Povo Asiático
/
Conexina 26
/
Genética
/
Perda Auditiva
/
Perda Auditiva Neurossensorial
/
Mutação
Limite:
Humanos
Idioma:
Chinês
Revista:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Ano de publicação:
2014
Tipo de documento:
Artigo
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