Literature DB >> 12172392

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

Aileen Kenneson1, Kim Van Naarden Braun, Coleen Boyle.   

Abstract

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: 167 Delta T, 35 Delta G, and 235 Delta C. These alleles are recessive for nonsyndromic prelingual sensorineural hearing loss, and the evidence suggests complete penetrance but variable expressivity.

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Year:  2002        PMID： 12172392     DOI： 10.1097/00125817-200207000-00004

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


  107 in total

1.  Interpretation of association signals and identification of causal variants from genome-wide association studies.

Authors:  Kai Wang; Samuel P Dickson; Catherine A Stolle; Ian D Krantz; David B Goldstein; Hakon Hakonarson
Journal:  Am J Hum Genet       Date:  2010-04-29       Impact factor: 11.025

2.  A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.

Authors:  Juan R González; Wenyi Wang; Ester Ballana; Xavier Estivill
Journal:  Hum Mutat       Date:  2006-11       Impact factor: 4.878

3.  3p-- syndrome defines a hearing loss locus in 3p25.3.

Authors:  Brendan J McCullough; Joe C Adams; Dustin J Shilling; M Patrick Feeney; Kathleen C Y Sie; Bruce L Tempel
Journal:  Hear Res       Date:  2007-01-08       Impact factor: 3.208

4.  Correlation between GJB2 mutations and audiological deficits: personal experience.

Authors:  Pasqualina M Picciotti; Roberta Pietrobono; Giovanni Neri; Gaetano Paludetti; Anna Rita Fetoni; Francesca Cianfrone; Maria Grazia Pomponi
Journal:  Eur Arch Otorhinolaryngol       Date:  2008-07-31       Impact factor: 2.503

5.  Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.

Authors:  Gülistan Meşe; Eric Londin; Rickie Mui; Peter R Brink; Thomas W White
Journal:  Hum Genet       Date:  2004-07-07       Impact factor: 4.132

6.  Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.

Authors:  Nele Hilgert; Matthew J Huentelman; Ashley Q Thorburn; Erik Fransen; Nele Dieltjens; Malgorzata Mueller-Malesinska; Agnieszka Pollak; Agata Skorka; Jaroslaw Waligora; Rafal Ploski; Pierangela Castorina; Paola Primignani; Umberto Ambrosetti; Alessandra Murgia; Eva Orzan; Arti Pandya; Kathleen Arnos; Virginia Norris; Pavel Seeman; Petr Janousek; Delphine Feldmann; Sandrine Marlin; Françoise Denoyelle; Carla J Nishimura; Andreas Janecke; Doris Nekahm-Heis; Alessandro Martini; Elena Mennucci; Timea Tóth; Istvan Sziklai; Ignacio Del Castillo; Felipe Moreno; Michael B Petersen; Vasiliki Iliadou; Mustafa Tekin; Armagan Incesulu; Ewa Nowakowska; Jerzy Bal; Paul Van de Heyning; Anne-Françoise Roux; Catherine Blanchet; Cyril Goizet; Guenaëlle Lancelot; Graça Fialho; Helena Caria; Xue Zhong Liu; Ouyang Xiaomei; Paul Govaerts; Karen Grønskov; Karianne Hostmark; Klemens Frei; Ingeborg Dhooge; Stephen Vlaeminck; Erdmute Kunstmann; Lut Van Laer; Richard J H Smith; Guy Van Camp
Journal:  Eur J Hum Genet       Date:  2008-11-05       Impact factor: 4.246

7.  Ethnic differences in parental perceptions of genetic testing for deaf infants.

Authors:  Christina G S Palmer; Ariadna Martinez; Michelle Fox; Yvonne Sininger; Wayne W Grody; Lisa A Schimmenti
Journal:  J Genet Couns       Date:  2007-10-19       Impact factor: 2.537

8.  Rare variants create synthetic genome-wide associations.

Authors:  Samuel P Dickson; Kai Wang; Ian Krantz; Hakon Hakonarson; David B Goldstein
Journal:  PLoS Biol       Date:  2010-01-26       Impact factor: 8.029

9.  Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.

Authors:  Juan Rodriguez-Paris; Lynn Pique; Tahl Colen; Joseph Roberson; Phyllis Gardner; Iris Schrijver
Journal:  PLoS One       Date:  2010-07-26       Impact factor: 3.240

10.  Examining the relationship between genetic counselors' attitudes toward deaf people and the genetic counseling session.

Authors:  Emily E Enns; Patrick Boudreault; Christina G S Palmer
Journal:  J Genet Couns       Date:  2009-11-11       Impact factor: 2.537
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