rs3751385
This variant is located in the GJB2 gene.
▶ClinVar annotation
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 3A; Ichthyosis, hystrix-like, with hearing loss; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian populationAssociationN=188Rikkert L. Snoeckx et al.(2005)· American Journal of Medical Genetics Part A
This study performed comprehensive genetic examination of 188 unrelated Mongolian families with idiopathic sensorineural hearing impairment, screening three common deafness genes: GJB2, SLC26A4, and MT-RNR1. Confirmed genetic diagnoses were achieved in 18 families (9.6%), including 13 with bi-allelic GJB2 mutations, 3 with bi-allelic SLC26A4 mutations, and 2 with homoplasmic MT-RNR1 m.1555A>G mutation. Notably, three GJB2 mutations prevalent in other populations (c.35delG in Caucasians, c.235delC in East Asians, and c.-23+1G>A in South/Southwest Asians) were simultaneously detected in Mongolians, with haplotype analyses confirming independent founder effects for each mutation, providing insights into genetic relationships among Eurasian populations.
About GJB2
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
View all GJB2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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