Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

American Journal of Medical Genetics

Volumn 90, Issue 2, 2000, Pages 141-145

  Kudo, Takayuki ^a   Ikeda, Katsuhisa ^a   Kure, Shigeo ^a   Matsubara, Yoichi ^a   Oshima, Takeshi ^a   Watanabe, Ken Ichi ^a   Kawase, Tetsuaki ^a   Narisawa, Kuniaki ^a   Takasaka, Tomonori ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Connexin 26; GJB2; Japanese; Mutation; Polymorphism; Prelingual deafness

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ALLELE; ARTICLE; CHILD; CHILDHOOD DISEASE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC POLYMORPHISM; HAPLOTYPE; HEARING IMPAIRMENT; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HUMANS; JAPAN; MALE; MUTATION;

EID: 0034677194     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000117)90:2<141::AID-AJMG10>3.0.CO;2-G     Document Type: Article

References (12)

1. Avraham KB. 1998. Hear come more genes! Nat Med 11:1238-1239.
2. Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A. 1997. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 6:2163-2172.
3. Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Aguma L, Mansfield E, Rappaport E, Govea N, Mila M, Zelante L, Gasparini P. 1998. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351:394-398.
4. Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. 1998. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 62:792-799.
5. Kelsell DP, Dunlop JP, Stevens HP, Lench NJ, Liang JN, Parry G, Muller RF, Leigh IM. 1997. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387:80-83.
6. Kikuchi T, Kimura RS, Paul DL, Adams J. 1995. Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat Embryol 191:101-118.
7. Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, EL-Amraoui A, Marlin S, Petit C, Jentsch TJ. 1999. KCNQ4, a novel potassium channel expressed in sensory outer hair cells is mutated in dominant deafness. Cell 96:437-446.
8. Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Camp GV, Berlin CI, Oddoux C, Ostrer H, Keats B, Fredman TB. 1998. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 339:1500-1505.
9. Van Camp G, Smith RJH. Hereditary hearing loss homepage. http://dnalab-www.uia.ac.be/dnalab/hhh/
10. Xia J, Liu C, Yang B, Pan Q, Huang L, Dai H, Zhang B, Xie W, Hu D, Zheng D, Shi X, Wang D, Xia K, Yu K, Liao X, Feng Y, Xiao J, Xie D, Huang J, 1998. Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment. Nat Genet 20: 370-373.
11. Yasunaga S, Grati M, Cohen-Salmon M, El-Almraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C. 1999. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 21:363-369.
12. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Aguma L, Govea N, Mila M, Monica MD, Luffi J, Schohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. 1997. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6:1695-1609.