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.
Article
в Zh
| WPRIM
| ID: wpr-747642
Ответственная библиотека:
WPRO
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.
Полный текст:
1
База данных:
WPRIM
Основная тема:
Phenotype
/
Keratoderma, Palmoplantar
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Connexins
/
Deafness
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Asian People
/
Connexin 26
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Genetics
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Hearing Loss
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Hearing Loss, Sensorineural
/
Mutation
Пределы темы:
Humans
Язык:
Zh
Журнал:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Год:
2014
Тип:
Article