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Article

Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss.

Annals of human genetics - 1 Jan 2019

Azadegan-Dehkordi Fatemeh, Ahmadi Reza, Koohiyan Mahbobeh, Hashemzadeh-Chaleshtori Morteza

Abstract excerpt

Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes. Mutations of the gap junction beta-2 protein (GJB2) gene located in the nonsyndromic hearing loss and deafness (DFNB1) locus (chromosome 13q11-12) are the main causes of autosomal recessive nonsyndromic hearing loss worldwide, but...

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Identifiers

PMID: 30175840
DOI: 10.1111/ahg.12284

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GJB2

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