RGD Reference Report - Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. - Rat Genome Database

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Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Authors: Verpy, E  Masmoudi, S  Zwaenepoel, I  Leibovici, M  Hutchin, TP  Del Castillo, I  Nouaille, S  Blanchard, S  Laine, S  Popot, JL  Moreno, F  Mueller, RF  Petit, C 
Citation: Verpy E, etal., Nat Genet. 2001 Nov;29(3):345-9.
RGD ID: 1599186
Pubmed: PMID:11687802   (View Abstract at PubMed)
DOI: DOI:10.1038/ng726   (Journal Full-text)

Hearing impairment affects about 1 in 1,000 children at birth. Approximately 70 loci implicated in non-syndromic forms of deafness have been reported in humans and 24 causative genes have been identified (see also http://www.uia.ac.be/dnalab/hhh). We report a mouse transcript, isolated by a candidate deafness gene approach, that is expressed almost exclusively in the inner ear. Genomic analysis shows that the human ortholog STRC (so called owing to the name we have given its protein-stereocilin), which is located on chromosome 15q15, contains 29 exons encompassing approximately 19 kb. STRC is tandemly duplicated, with the coding sequence of the second copy interrupted by a stop codon in exon 20. We have identified two frameshift mutations and a large deletion in the copy containing 29 coding exons in two families affected by autosomal recessive non-syndromal sensorineural deafness linked to the DFNB16 locus. Stereocilin is made up of 1,809 amino acids, and contains a putative signal petide and several hydrophobic segments. Using immunohistolabeling, we demonstrate that, in the mouse inner ear, stereocilin is expressed only in the sensory hair cells and is associated with the stereocilia, the stiff microvilli forming the structure for mechanoreception of sound stimulation.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
sensorineural hearing loss  IAGP 1599186 RGD 
sensorineural hearing loss  ISOSTRC (Homo sapiens)1599186 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Strc  (stereocilin)

Genes (Homo sapiens)
STRC  (stereocilin)


Additional Information