GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

• Published in: Human genetics Vol. 112; no. 4; pp. 329 - 333
• Main Authors: OHTSUKA, Akihiro, YUGE, Isamu, KIMURA, Shinobu, NAMBA, Atsushi, ABE, Satoko, VAN LAER, Lut, VAN CAMP, Guy, USAMI, Shin-Ichi
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-04-2003; Berlin Springer Nature B.V; New York, NY
• Subjects: Amino Acid Sequence; Asian Continental Ancestry Group - genetics; Biological and medical sciences; Case-Control Studies; Classical genetics, quantitative genetics, hybrids; Connexin 26; Connexins - genetics; Deafness - genetics; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology; Founder Effect; Fundamental and applied biological sciences. Psychology; Genes; Genetic aspects; Genetics of eukaryotes. Biological and molecular evolution; Hearing Loss, Sensorineural - genetics; Heterozygote; Homozygote; Human; Humans; Japan; Medical sciences; Molecular Sequence Data; Mutation; Non tumoral diseases; Otorhinolaryngology. Stomatology; Polymorphism, Single Nucleotide - genetics; Single nucleotide polymorphisms; Asia; Japan; Auditory disorder; ENT disease; Mutation; Gene; Hearing loss
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s00439-002-0889-x

Mutations in the GJB2 gene (connexin 26) are the major cause of autosomal recessive non-syndromic hearing impairment in many populations. In contrast to the volume of information regarding the involvement of GJB2 mutations in hearing impairment in populations of European ancestry, less is known regarding other ethnic groups. In this study, we analyzed the GJB2 gene for mutations in 1227 hearing-impaired Japanese individuals. This revealed a unique spectrum of GJB2 mutations, different from that found in the Caucasian population. The most frequent mutation in Japanese, 235delC, has never been reported in Caucasians. To investigate a possible founder effect for the 235delC mutation, we analyzed single nucleotide polymorphisms in the vicinity of the GJB2 gene. Results were consistent with inheritance of the 235delC mutation from a common ancestor. The results of this study have important implications for genetic diagnostic testing for deafness in the Japanese population.