R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma

Mutations in the GJB2 gene encoding connexin 26 (Cx26) are major causes of hereditary deafness. This study aimed to characterize the mutation profiles of the GJB2 gene in a Chinese family with sensorineural hearing loss. A Chinese family that included three individuals with sensorineural hearing los...

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Bibliographic Details
Published in:International journal of pediatric otorhinolaryngology 2014-09, Vol.78 (9), p.1461-1466
Main Authors: Jiang, Shu-juan, Di, Zheng-hong, Huang, Dan, Zhang, Jiu-bin, Zhang, Yuan-yuan, Li, Shu-qin, He, Rong
Format: Article
Language:English
Subjects:
Adult
Asian Continental Ancestry Group - genetics
China
Connexin 26
Connexins - genetics
De novo mutation
Female
GJB2 gene
Hearing impairment
Hearing Loss, Sensorineural - complications
Hearing Loss, Sensorineural - genetics
Humans
Keratoderma, Palmoplantar - complications
Keratoderma, Palmoplantar - genetics
Male
Middle Aged
Mutation
Palmoplantar keratoderma
Pedigree
Structural analysis
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Summary:Mutations in the GJB2 gene encoding connexin 26 (Cx26) are major causes of hereditary deafness. This study aimed to characterize the mutation profiles of the GJB2 gene in a Chinese family with sensorineural hearing loss. A Chinese family that included three individuals with sensorineural hearing loss and palmoplantar keratoderma underwent complete physical examinations, audiological examinations including pure tone audiometry and auditory brainstem response, skin pathological examination, and temporal CT scans. The entire coding region of GJB2, GJB3, GJB6, and the coding exons (exon7+8 and 19) of SLC26A4, mitochondrial 12SrRNA, and tRNA Ser (UCN) were sequenced. Structural analysis was performed to detect the effects of mutation on the tertiary structure of Cx26. A dominant GJB2 mutation, c.224G>A (p.Arg75Gln, p.R75Q), was detected in the family. No other mutation was identified in GJB2, GJB3, GJB6, or the coding exons (exon7+8 and 19) of SLC26A4, mitochondrial 12SrRNA, and tRNA Ser (UCN). Structural analysis revealed that the p.R75Q mutation likely affects the structural stability and permeation properties of the Cx26 gap junction channel. Our findings provide further evidence of a correlation between the p.R75Q mutation in Cx26 and a syndromic hearing impairment with palmoplantar keratoderma.
ISSN:0165-5876
1872-8464
DOI:10.1016/j.ijporl.2014.06.008