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TECTA mutations were identified in 6.0% of mid-frequency sensorineural hearing loss cases; these mutations were more frequent in patients with shallow U-shaped audiograms than those with U-shaped audiograms, and in families which have the family histories compatible with autosomal dominant than those with the family histories compatible with sporadic or autosomal recessive.
Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review]
A novel homozygous variant (c.734G > A) was found in exon 5 of the TECTA gene in one family leading to a nonsense mutation causing autosomal recessive nonsyndromic hearing loss.
To our knowledge, this is the first reported TECTA mutation leading to the DFNB21 form of hearing impairment among Maghrebian individuals suffering from congenital hearing impairment
the present report suggest that the association of RWDD3 and TECTA with paclitaxel-induced peripheral neuropathy may have been a false positive signal
Here we confirm a known genotype-phenotype correlation for the ZP domain and propose a hypothetical genotype-phenotype correlation which relates mutations in vWFD3-D4 to stable high-frequency NSHL in Koreans.
Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.
Identified the c.211delC mutation in the KCNQ4 gene and the c.2967C>A (p.H989Q) mutation in the TECTA gene to be associated with high-frequency sensorineural hearing loss in a Japanese family.
A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.
Data indicate that sequencing of candidate gene TECTA (alpha-tectorin) revealed a heterozygous c.5945C>A substitution in exon 19, causing amino acid substitution of Ala to Asp at a conservative position 1982.
this study failed to replicate a GWAS reporting an association between the 2 SNPs rs2296308 in RWDD3 and rs1829 in the intron of TECTA and time to neuropathy in ovarian cancer patients treated with paclitaxel
we have reported the prevalence of TECTA mutations in Japanese autosomal dominant nonsyndromic hearing loss (ADNSHL) patients detected by genetic screening, and confirmed the genotype-phenotype correlations.
analysis allowed us to identify an aberrant transcript with skipping of exon 16, without affecting the reading frame. One of the dominant TECTA mutations already described, a synonymous substitution in exon 16
CEACAM16 can probably form higher order structures with other tectorial membrane proteins such as alpha-tectorin and beta-tectorin and influences the physical properties of the tectorial membrane
Here, we identified a missense mutation (p.C1691F) and a splicing mutation (c.6162+3insT), one in each TECTA allele, in the patient with hearing loss.
mutations in the N-terminal region of alpha-tectorin lead to mid-frequency nonsyndromic hearing loss
data identify CEACAM16 as an alpha-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus
Mutation analysis of the TECTA gene was performed in 62 Korean patients with hereditary hearing loss.
The tectorial membrane was shortened in heterozygous Tecta(C1509G/+) mice, reaching only the first row of outer hair cells.
distinctive phenotype associated with homozygosity for two novel frameshift mutations (649insC and 6037delG) of TECTA cosegregating with hearing loss linked to DFNB21
This study demonstrated that the Tecta(Y1870C/+) Mice Reflect Changes in Cochlear Amplification and How It Is Controlled by the Tectorial Membrane.
These results highlight the importance of the tectorin-based matrix and epithelial signals for precise collagen organisation in the tectorial membrane.
Alpha-tectorin and beta-tectorin crosslink type II collagen fibrils and connect the tectorial membrane to the spiral limbus.
Tecta mutant mice all exhibit an enhanced tendency to have audiogenic seizures in response to white noise stimuli.
The morphology and mechanical properties of wild-type, heterozygous, and homozygous Tecta tecta membrane, were analysed.
In Tecta(Y)(1870C/+) mice, the tectorin content of the tectorial membrane was reduced, as was the content of glycoconjugates reacting with the lectin wheat germ agglutinin.
The Tecta (A349D/A349D) mouse reveals that missense mutations in Tecta can be recessive and lead to tectorial membrane detachment
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.
, alpha tectorin