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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.
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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]
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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.
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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
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the present report suggest that the association of RWDD3 and TECTA with paclitaxel-induced peripheral neuropathy may have been a false positive signal
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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.
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Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.
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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.
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A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.
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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.
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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
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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.
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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
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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
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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.
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mutations in the N-terminal region of alpha-tectorin lead to mid-frequency nonsyndromic hearing loss
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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
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Mutation analysis of the TECTA gene was performed in 62 Korean patients with hereditary hearing loss.
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The tectorial membrane was shortened in heterozygous Tecta(C1509G/+) mice, reaching only the first row of outer hair cells.
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distinctive phenotype associated with homozygosity for two novel frameshift mutations (649insC and 6037delG) of TECTA cosegregating with hearing loss linked to DFNB21
