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Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
A locus for dominant deafness is reported, DFNA36, which maps to human chromosome 9q13–21 in a region overlapping the DFNB7/B11 locusfor recessive deafness, and eight mutations in a new gene, transmembrane cochlear-expressed gene 1 (TMC1), are identified.
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
It is demonstrated that if green fluorescent protein (GFP)-Myo15a is transfected into hair cells of Myo15ash2 mice, the wild-type pattern of hair bundles is restored by recruitment of endogenous whirlin to the tips of stereocilia.
Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
We have identified five different homozygous recessive mutations in a novel gene, TMIE (transmembrane inner ear expressed gene), in affected members of consanguineous families segregating…
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
Seven families with profound congenital hearing loss from Pakistan and India with evidence of linkage to DFNB3 at 17p11.2.2 are ascertained and three novel homozygous mutations in MYO15A segregating in three of these families are reported.
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
In seven families, six different mutant alleles of TRIOBP on chromosome 22q13 cosegregate with autosomal recessive nonsyndromic deafness. These alleles include four nonsense (Q297X, R788X, R1068X,…
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction
The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness and establish espin as an essential protein for hearing and Vestibular function in humans.
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation
The phenotypic spectrum of a recently identified mutation in COX20 is extended to a recessively inherited, early-onset dystonia-ataxia syndrome that is characterized by reduced complex IV activity.
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness
This work analysed a total of 159 consanguineous Pakistani families that were linked to DFNB8/B10 linked families, and identified the TMPRSS3 gene, which was shown to be mutated in affected subjects of both families.
Distinctive audiometric profile associated with DFNB21 alleles of TECTA
In the absence of syndromic associations to guide genetic diagnosis, the auditory and vestibular features provide the only phenotypic clues to direct molecular diagnostic testing, and the phenotype of NSRD is usually non-specific.