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Novel TMC1 mutation 773G>A was identified in a family with nonsyndromic hearing loss.
the whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (show EVC2 Proteins) (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC (show EVC Proteins) gene.
Pathogenic variations in the TMC1 gene (encoding the transmembrane channel-like protein 1) are found in more than a third of hearing-impaired Jewish patients of Moroccan ancestry.
the identification of a previously identified c.100C>T mutation, and a novel homozygous mutation, c.1283C>A in TMC1, in this study supports TMC1 gene as one of the second-tier hearing loss genes, after GJB2 (show GJB2 Proteins) in India. Testing for TMC1 may be considered in all GJB2 (show GJB2 Proteins)-negative nonsyndromic hearing loss cases
two novel mutations in the WHRN and TMC1 genes are responsible for founder effects of hereditary hemochromatosis (show HFE Proteins), Wilson s disease, the long QT syndrome and autosomal recessive deafness in a Swedish pedigree
a novel TMC1 mutation in exon 20, c.1979C>T, p.P660L, which segregated with prelingual autosomal recessive sensorineural hearing loss, was found.
there is hypo-functional TMC1 mechanotransduction channel activity and other even less damaging variants of TMC1 may be associated with more common mild-to-severe sensorineural hearing loss.
TMC1 has been identified as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
The first mutation in the TMC1 gene in the Moroccan population causing non-syndromic hearing loss.
The novel compound heterozygous mutant alleles of TMC1 identified in this study were responsible for the autosomal recessive non-syndromic hearing loss in this Tibetan Chinese family.
This study showed that calcium and integrin-binding protein (show CIB1 Proteins) 2 binds to the components of the hair cell mechanotransduction complex, TMC1 and TMC2, and these interactions are disrupted by deafness-causing Cib2 (show CIB2 Proteins) mutations.
TMC1 and TMC2 are components of the stereocilia mechanoelectrical transduction channel complex.
The results suggest that a major component of channel adaptation is regulated by changes in intracellular Ca(2 (show CA2 Proteins)+).
This study demonstrated that the M412K point mutation in TMC1 of Beethoven mice leads to a reduced Ca2 (show CA2 Proteins)+ permeability, more so in Tmc1Bth/Bth than in Tmc1Bh/+, and conductance of the MET channel of Mouse Outer Hair Cells.
gene augmentation with Tmc1 or Tmc2 is well suited for further development as a strategy for restoration of auditory function in deaf patients who carry TMC1 mutations
During the first postnatal week, we observed a normal mechanotransducer current in hair cells lacking Tmc1 or Tmc2; however, in the absence of both isoforms, we recorded a large MT current that was phase-shifted 180 degrees .
This study demonstrate TMC1 is components of hair cell transduction channels and contribute to permeation properties.
Tmc1 is expressed in mouse vestibular & cochlear hair cells near the stereocilia tips. Deletion of Tmc1 & Tmc2 causes deafness. Restoration of Tmc1 rescues mechanotransduction.
Tmc1 was present within the endoplasmic reticulum as an integral membrane protein containing six transmembrane domains and cytosolic N- and C-termini.
This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown\; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness.
transmembrane channel-like protein 1
, transmembrane channel-like 1
, transmembrane channel-like protein 1-like
, transmembrane cochlear-expressed protein 1
, transmembrane, cochlear expressed, 1
, transmembrane channel-like gene family 1
, deafness protein
, transmembrane, cochlear expressed 1