GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review

被引：307

作者：

Kenneson, A ^{[1
]}

Braun, KV ^{[1
]}

Boyle, C ^{[1
]}

机构：

[1] Ctr Dis Control & Prevent, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA 30341 USA

来源：

GENETICS IN MEDICINE | 2002年 / 4卷 / 04期

关键词：

GJB2; connexin; 26; hearing loss;

D O I：

10.1097/00125817-200207000-00004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Despite the enormous heterogeneity of genetic hearing loss, variants in one locus, Gap Junction Beta 2 or GJB2 (connexin 26), account for up to 50% of cases of nonsyndromic sensorineural hearing loss in some populations. This article reviews genetic epidemiology studies of the alleles of GJB2, prevalence rates, genotype-phenotype relations, contribution to the incidence of hearing loss, and other issues related to the clinical validity of genetic testing for GJB2. This review focuses primarily on three alleles: 167DeltaT, 35DeltaG, and 235DeltaC. These alleles are recessive for nonsyndromic prelingual sensorineural hearing loss, and the evidence suggests complete penetrance but variable expressivity.

引用

页码：258 / 274

页数：17

共 100 条

[1] Prevalent connexin 26 gene (GJB2) mutations in Japanese [J].

Abe, S ;

Usami, S ;

Shinkawa, H ;

Kelley, PM ;

Kimberling, WJ .

JOURNAL OF MEDICAL GENETICS, 2000, 37 (01) :41-43

[2]

Abe S, 2001, AM J MED GENET, V103, P334, DOI 10.1002/1096-8628(20011101)103:4<334::AID-AJMG1574>3.3.CO

[3]

2-6

[4]

Angeli S, 2000, ACTA OTO-LARYNGOL, V120, P133

[5]

Anichkina A, 2001, EUR J HUM GENET, V9, P151, DOI 10.1038/sj.ejhg.5200596

[6]

[Anonymous], 2000, Am J Audiol, V9, P9

[7]

[Anonymous], 1997, FINAL REPORT TASK FO

[8]

Antoniadi T, 2000, HUM MUTAT, V16, P7, DOI 10.1002/1098-1004(200007)16:1<7::AID-HUMU2>3.0.CO

[9]

2-A

[10]

Antoniadi T, 1999, CLIN GENET, V55, P381

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