GJB6


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Related to GJB6: GJB2

GJB6

Notation for a gene for DFNA3.

GJB6

A gene on chromosome 13q11-q12.1|13q12 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB6 mutations occur in some hereditary forms of deafness and hidrotic ectodermal dysplasia.
References in periodicals archive ?
We performed a series of molecular investigations and reviewed the literature with the aim of validating the clinical utility of testing for GJB2, GJB6 and GJA1 in the African context.
All the coding regions of GJB2, GJB6 and GJA1 were amplified and detection of del(GJB6-D13S1830) was also investigated.
In the GJB6 gene, none of the patients had the GJB6-D13S1830 deletion.
Few mutations in GJB2, GJB6 or GJA1 genes among other populations of African ancestry
As in previous studies in Africans, [17] African Americans and Caribbean Hispanics with GJB6 mutations, [19] we did not find either the GJB6-D13S1830 deletion or coding region changes.
From our analysis, there is no evidence that mutations in GJB2, GJB6 or GJA1 are associated with non-syndromic deafness in sub-Saharan African patients.
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.
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.
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.