rs2135059469
This variant is located in the TECTA gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Evaluation of the Myosin VIIA Gene and Visual Function in Patients with Usher Syndrome Type ICase reportN=103Amitabh K. Bharadwaj et al.(2000)· Experimental Eye Research
Genomic studies in 103 Italian patients with non-syndromic hearing loss (NSHL) using targeted re-sequencing of 96 HHL genes followed by SNP arrays identified mutations in 31% of cases (37% familial, 26.3% sporadic), with TECTA and ACTG1 as major genes. The study identified 17 new alleles, two de novo ACTG1 variants, and the first case of uniparental disomy in LOXHD1, achieving an overall 51% detection rate when combined with GJB2.
About TECTA
The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008]
View all TECTA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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