Prevalent connexin 26 gene (GJB2) mutations in Japanese

Journal of Medical Genetics

Volumn 37, Issue 1, 2000, Pages 41-43

  Abe, Satoko ^a   Usami, Shin Ichi ^a   Shinkawa, Hideichi ^a   Kelley, Philip M ^b   Kimberling, William J ^b  

^a HIROSAKI UNIVERSITY   (Japan)

^b BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

Author keywords

Connexin 26; GJB2; Japanese; Non syndromic hearing loss

Indexed keywords

CONNEXIN 26;

ARTICLE; CAUCASIAN; CONTROLLED STUDY; GENE MUTATION; GENETIC ANALYSIS; HEARING LOSS; HUMAN; JAPAN; MAJOR CLINICAL STUDY; PREVALENCE; PRIORITY JOURNAL;

EID: 0034013087     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.1.41     Document Type: Article

References (8)

1. Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80-3.
2. Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997; 6:2173-7.
3. Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394-8.
4. Kelley PM, Harris DJ, Corner BC, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998;62: 792-9.
5. Zelante L, Gasparini P, Estivill X, et al. Connexin26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6: 1605-9.
6. Lench NJ, Markham AF, Mueller RF, et al. A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). J Med Genet 1998;35:151-2.
7. Brobby GW, Muller-Myhsok B, Horstmann RD. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 1998;338:548-50.
8. Morell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339: 1500-5.