Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1

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. -->

ISSN:	1420-3030
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5d0224f224c5d34a0cd4d8aff5ec5197 http://hdl.handle.net/2066/97261
Rights:	RESTRICTED
Přírůstkové číslo:	edsair.dedup.wf.001..5d0224f224c5d34a0cd4d8aff5ec5197
Autor:	Heer, A.M. de, Collin, R.W.J., Huygen, P.L.M., Schraders, M., Oostrik, J., Rouwette, M., Kunst, H.P.M., Kremer, J.M.J., Cremers, C.W.R.J.
Rok vydání:	2011
Předmět:	Genomic disorders and inherited multi-system disorders [IGMD 3] Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6] Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6] Functional Neurogenomics [DCN 2] Genetics and epigenetic pathways of disease Neuroinformatics [NCMLS 6]
Zdroj:	Audiology and Neuro-Otology, 16, 93-105 Audiology and Neuro-Otology, 16, 2, pp. 93-105
ISSN:	1420-3030
Popis:	Item does not contain fulltext 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.
Databáze:	OpenAIRE
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