Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.

American journal of medical genetics. Part A - 15 Apr 2007

Samanich Joy, Lowes Christina, Burk Robert, Shanske Sara, Lu J, Shanske Alan, Morrow Bernice E

Abstract excerpt

Autosomal recessive nonsyndromic sensorineural hearing impairment (ARNSHI) comprises 80% of familial hearing loss cases. Approximately half result from mutations in the connexin 26 (Cx26) gene, GJB2, in Caucasian populations. Heterozygous mutations in GJB2 occasionally co-occur with a deletion of part of GJB6 (connexin 30; Cx30). It is estimated that approximately 1% of deafness is maternally inherited, due to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Black or African American
Share to Caribbean Region

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexin 26

Share to Connexin 30

Share to Connexins

Share to DNA, Mitochondrial

Share to Hearing Loss

Share to Hispanic or Latino

Source

Identifiers

PMID: 17357124
DOI: 10.1002/ajmg.a.31668

Genes

GJB2
GJB6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.PMID 17357124Read ↗

GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.Semantic proximity Read ↗

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.Semantic proximity Read ↗

No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans.Semantic proximity Read ↗

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.Semantic proximity Read ↗

In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes.Semantic proximity Read ↗

Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness.Semantic proximity Read ↗

Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss.Semantic proximity Read ↗

Mutations of the Connexin 26 gene in families with non-syndromic hearing loss.Semantic proximity Read ↗

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.Semantic proximity Read ↗

Connexin gene mutations among Ugandan patients with nonsyndromic sensorineural hearing loss.Semantic proximity Read ↗

Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward.Semantic proximity Read ↗

A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.