GeneticsThree novel connexin26 gene mutations in autosomal recessive nonsyndromic deafnessFuse, Yuka1; Doi, Katsumi1,2; Hasegawa, Taro1; Sugii, Ayako1; Hibino, Hiroshi1; Kubo, Takeshi1Author Information 1Department of Otolaryngology, Osaka University Medical School, 2-2 Yamada-oka, Suita, Osaka 565-0871, Japan. 2Corresponding Author: Katsumi Doi Received 23 March 1999; accepted 21 April 1999 NeuroReport: June 23rd, 1999 - Volume 10 - Issue 9 - p 1853-1857 Buy Abstract SINCE the first identification of an association between mutations in the connexin26 (Cx26) gene and autosomal recessive non-syndromic deafness it has been shown that several mutations in this gene cause recessive, sporadic, and dominant non-syndromic deafness. Three novel mutations in the Cx26 gene were identified in four of 20 Japanese families with autosomal recessive non-syndromic deafness. Seven of 40 chromosomes contained a 233delC allele, while Tyr136Stop (408C→A) and Gly45Glu (134G→A) were detected in two of 40 chromosomes, respectively. These mutations were not found in chromosomes in cases of sporadic congenital deafness (0/60) or in control groups (0/100). This indicates that 27.5% (11/40 chromosomes) of cases of autosomal recessive non-syndromic deafness among the Japanese are caused by mutations in the Cx26 gene. © 1999 Lippincott Williams & Wilkins, Inc.