Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1
Publication year
2011Source
Audiology and Neuro-Otology, 16, 2, (2011), pp. 93-105ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Otorhinolaryngology
Ophthalmology
Human Genetics
Journal title
Audiology and Neuro-Otology
Volume
vol. 16
Issue
iss. 2
Page start
p. 93
Page end
p. 105
Subject
DCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics; NCMLS 6: Genetics and epigenetic pathways of disease DCN 3: Neuroinformatics; NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disordersAbstract
In a Dutch family with autosomal recessive hearing loss, genome-wide single-nucleotide polymorphism analysis mapped the genetic defect to the DFNB7/11 locus. A novel homozygous A-to-G change in the TMC1 gene was detected near the splice donor site of intron 19 (c.1763+3A-->G) segregating with the hearing loss in this family. One of the 6 transmembrane domains and the actual TMC channel domain are predicted to be absent in the mutant protein. The sensorineural hearing impairment in this DFNB7/11 family has a postlingual onset. Audiometric analysis initially showed a steeply downward-sloping threshold configuration. The progressive phenotype in this family resembles the phenotype previously described for families with dominant TMC1 mutations (DFNA36) rather than that of families with recessive TMC1 mutations (DFNB7/11) which invariably cause severe-to-profound prelingual hearing impairment.
This item appears in the following Collection(s)
- Academic publications [227881]
- Faculty of Medical Sciences [86219]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.