rs143797113
This is a variant in the CLDN14 gene that changes a alanine to an valine.
▶ClinVar annotation
Autosomal recessive nonsyndromic hearing loss 29; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effectAssociationN=450Justin A. Pater et al.(2017)· Human Genetics
This study identifies a CLDN14 variant (c.488C>T; p.Ala163Val, rs143797113) as likely pathogenic for autosomal recessive, prelingual sensorineural hearing loss in multiple Newfoundland families of Irish ancestry. Affected individuals have normal hearing at birth but experience rapid, precipitous hearing loss beginning around 3-4 years of age, characterized by steeply sloping thresholds at mid to high frequencies. Haplotype analysis shows all 12 affected individuals across four families share a 1.4 Mb ancestral DFNB29-associated haplotype, indicating a founder effect, with approximately 1% of the Newfoundland population being heterozygous carriers.
About CLDN14
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]
View all CLDN14 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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