PMID- 10607953
OWN - NLM
STAT- MEDLINE
DCOM- 20000315
LR  - 20220318
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 90
IP  - 2
DP  - 2000 Jan 17
TI  - Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness
      in the Japanese population.
PG  - 141-5
AB  - Mutations in the connexin 26 gene (GJB2), which encodes a gap-junction protein
      and is expressed in the inner ear, have been shown to be responsible for a major 
      part of nonsyndromic hereditary prelingual (early-childhood) deafness in
      Caucasians. We have sequenced the GJB2 gene in 39 Japanese patients with
      prelingual deafness (group 1), 39 Japanese patients with postlingual progressive 
      sensorineural hearing loss (group 2), and 63 Japanese individuals with normal
      hearing (group 3). Three novel mutations were identified in group 1: a single
      nucleotide deletion (235delC), a 16-bp deletion (176-191 del (16)), and a
      nonsense mutation (Y136X) in five unrelated patients. The 235delC mutation was
      most frequently observed, accounting for seven alleles in 10 mutant alleles.
      Screening of 203 unrelated normal individuals for the three mutations indicated
      that the carrier frequency of the 235delC mutation was 2/203 in the Japanese
      population. No mutation was found in group-2 patients. We also identified two
      novel polymorphisms (E114G and I203T) as well as two previously reported
      polymorphisms (V27I andV37I). Genotyping with these four polymorphisms allowed
      normal Japanese alleles to be classified into seven haplotypes. All 235delC
      mutant alleles identified in four patients resided only on haplotype type 1.
      These findings indicate that GJB2 mutations are also responsible for prelingual
      deafness in Japan.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Kudo, T
AU  - Kudo T
AD  - Department of Otorhinolaryngology, Tohoku University School of Medicine, Sendai, 
      Japan. kudo@orl.med.tohoku.ac.jp
FAU - Ikeda, K
AU  - Ikeda K
FAU - Kure, S
AU  - Kure S
FAU - Matsubara, Y
AU  - Matsubara Y
FAU - Oshima, T
AU  - Oshima T
FAU - Watanabe, K i
AU  - Watanabe Ki
FAU - Kawase, T
AU  - Kawase T
FAU - Narisawa, K
AU  - Narisawa K
FAU - Takasaka, T
AU  - Takasaka T
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Connexins)
RN  - 0 (GJB2 protein, human)
RN  - 127120-53-0 (Connexin 26)
SB  - IM
CIN - Am J Med Genet A. 2007 Aug 1;143A(15):1810-1. PMID: 17587210
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Connexin 26
MH  - Connexins/*genetics
MH  - DNA Mutational Analysis
MH  - Deafness/*genetics
MH  - Female
MH  - Haplotypes
MH  - Hearing Loss, Sensorineural/genetics
MH  - Humans
MH  - Japan
MH  - Male
MH  - *Mutation
EDAT- 1999/12/23 09:00
MHDA- 2000/03/18 09:00
CRDT- 1999/12/23 09:00
PHST- 1999/12/23 09:00 [pubmed]
PHST- 2000/03/18 09:00 [medline]
PHST- 1999/12/23 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000117)90:2<141::AID-AJMG10>3.0.CO;2-G [pii]
AID - 10.1002/(sici)1096-8628(20000117)90:2<141::aid-ajmg10>3.0.co;2-g [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Jan 17;90(2):141-5. doi:
      10.1002/(sici)1096-8628(20000117)90:2<141::aid-ajmg10>3.0.co;2-g.