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Recessive mutations of TMC1 associated with moderate to severe hearing loss

Content Provider	Springer Nature Link
Author	Imtiaz, Ayesha Maqsood, Azra Rehman, Atteeq U. Morell, Robert J. Holt, Jeffrey R. Friedman, Thomas B. Naz, Sadaf
Copyright Year	2016
Abstract	TMC1 encodes a protein required for the normal function of mechanically activated channels that enable sensory transduction in auditory and vestibular hair cells. TMC1 protein is localized at the tips of the hair cell stereocilia, the site of conventional mechanotransduction. In many populations, loss-of-function recessive mutations of TMC1 are associated with profound deafness across all frequencies tested. In six families reported here, variable moderate-to-severe or moderate-to-profound hearing loss co-segregated with STR (short tandem repeats) markers at the TMC1 locus DFNB7/11. Massively parallel and Sanger sequencing of genomic DNA revealed each family co-segregating hearing loss with a homozygous TMC1 mutation: two reported mutations (p.R34X and p.R389Q) and three novel mutations (p.S596R, p.N199I, and c.1404 + 1G > T). TMC1 cDNA sequence from affected subjects homozygous for the donor splice site transversion c.1404 + 1G > T revealed skipping of exon 16, deleting 60 amino acids from the TMC1 protein. Since the mutations in our study cause less than profound hearing loss, we speculate that there is hypo-functional TMC1 mechanotransduction channel activity and that other even less damaging variants of TMC1 may be associated with more common mild-to-severe sensorineural hearing loss.
Starting Page	115
Ending Page	123
Page Count	9
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	17
Issue Number	2
e-ISSN	13646753
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2016-02-16
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	TMC1 Mechanosensory transduction DFNB7/11 Moderate or severe hearing loss Neurosciences Human Genetics Molecular Medicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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