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Article

Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.

International journal of pediatric otorhinolaryngology - 1 Apr 2014

Bonyadi Mortaza J, Fotouhi Nikou, Esmaeili Mohsen

Abstract excerpt

OBJECTIVE: Mutations in GJB2 and GJB6 which comprise DFNB1 locus cause up to half of all cases of the prelingual autosomal recessive non-syndromic hearing loss (ARNSHL) worldwide. This study has intended to assess the spectrum and frequency of GJB2/GJB6 mutations in northwest of Iran. METHODS: 508 Patients with presumed ARNSHL were analyzed by applying ARMS-PCR, SSCP, PCR-RFLP and sequencing assays. RESULTS:...

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Cohort Studies
Connexin 26
Connexins
Deafness
Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24529908
DOI: 10.1016/j.ijporl.2014.01.022

Genes

GJB2
GJB6

Variants

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