A novel dominant missense mutation - D179N - in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss

Mutations of the GJB2 gene, encoding Connexin 26, are the most common cause of hereditary congenital hearing loss in many countries, and account for up to 50% of cases of autosomal‐recessive non‐syndromic deafness. By contrast, only a few GJB2 mutations have been reported to cause an autosomal‐domin...

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Bibliographic Details
Published in:Clinical genetics 2003-06, Vol.63 (6), p.516-521
Main Authors: Primignani, P, Castorina, P, Sironi, F, Curcio, C, Ambrosetti, U, Coviello, DA
Format: Article
Language:English
Subjects:
Amino Acid Substitution
Biological and medical sciences
Connexin 26
Connexin 30
Connexins - genetics
Connexins - metabolism
D179N
deafness
DNA Mutational Analysis
dominant inheritance
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Female
Genes, Dominant
GJB2 mutation
Hearing Loss - genetics
Hearing Loss - physiopathology
Humans
Male
Medical sciences
Mutation, Missense
Non tumoral diseases
Otorhinolaryngology. Stomatology
Pedigree
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Summary:Mutations of the GJB2 gene, encoding Connexin 26, are the most common cause of hereditary congenital hearing loss in many countries, and account for up to 50% of cases of autosomal‐recessive non‐syndromic deafness. By contrast, only a few GJB2 mutations have been reported to cause an autosomal‐dominant form of non‐syndromic deafness. We report on a family from southern Italy in whom dominant, non‐syndromic, post‐lingual hearing loss is associated with a novel missense mutation in the GJB2 gene. Direct sequencing of the gene showed a heterozygous G→A transition at nucleotide 535, resulting in an aspartic acid to asparagine amino acid substitution at codon 179 (D179N). This mutation occurred in the second extracellular domain (EC2), which would seem to be very important for connexon–connexon interaction.
ISSN:0009-9163
1399-0004
DOI:10.1034/j.1399-0004.2003.00079.x