Genet Med. 2002 Jul-Aug;4(4):258-74.

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

Kenneson A, Van Naarden Braun K, Boyle C.

Source

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341-3724, USA.

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.

PMID:: 12172392; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. [Ear Hear. 2009]
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC. Ear Hear. 2009 Feb; 30(1):1-7.
High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss. [Genet Test. 2006]
High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss.
Neocleous V, Aspris A, Shahpenterian V, Nicolaou V, Panagi C, Ioannou I, Kyamides Y, Anastasiadou V, Phylactou LA. Genet Test. 2006 Winter; 10(4):285-9.
Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. [Ear Hear. 2006]
Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness.
Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, Pandya A. Ear Hear. 2006 Dec; 27(6):732-41.
Review Gap-junction channels dysfunction in deafness and hearing loss. [Antioxid Redox Signal. 2009]
Review Gap-junction channels dysfunction in deafness and hearing loss.
Martínez AD, Acuña R, Figueroa V, Maripillan J, Nicholson B. Antioxid Redox Signal. 2009 Feb; 11(2):309-22.
Review Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. [Am J Med Genet. 1999]
Review Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.
Cohn ES, Kelley PM. Am J Med Genet. 1999 Sep 24; 89(3):130-6.

See reviews... See all...

Cited by 33 PubMed Central articles

Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity. [PLoS One. 2013]
Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity.
Kim SY, Park G, Han KH, Kim A, Koo JW, Chang SO, Oh SH, Park WY, Choi BY. PLoS One. 2013; 8(4):e61592. Epub 2013 Apr 25.
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling. [J Transl Med. 2012]
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.
Li Q, Zhu QW, Yuan YY, Huang SS, Han DY, Huang DL, Dai P. J Transl Med. 2012 Nov 14; 10:225. Epub 2012 Nov 14.
A population-based study of autosomal-recessive disease-causing mutations in a founder population. [Am J Hum Genet. 2012]
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C. Am J Hum Genet. 2012 Oct 5; 91(4):608-20. Epub 2012 Sep 13.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
ClinVar
Clinical variations associated with publication
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
MedGen
Related information in MedGen
MedGen (Bookshelf cited)
Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
SNP (Cited)
Nucleotide polymorphism records from dbSNP that have NCBI dbSNP identifiers reported in the PubMed abstract of the current articles.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
SNP
Nucleotide polymorphism records from dbSNP that have current articles as submitter-provided references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE ...
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
Genet Med. 2002 Jul-Aug ;4(4):258-74.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: