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

@article{Verpy2001MutationsIA,
  title={Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus},
  author={Elisabeth Verpy and Saber Masmoudi and Ingrid Zwaenepoel and Michel Leibovici and Timothy P. Hutchin and Ignacio Del Castillo and Sylvie Nouaille and Stéphane Blanchard and Sophie Lain{\'e} and J. L. Popot and Felipe Moreno and Robert F. Mueller and Christine Petit},
  journal={Nature Genetics},
  year={2001},
  volume={29},
  pages={345-349}
}
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… 

Figures from this paper

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
TLDR
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.
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
TLDR
Three families are identified segregating an autosomal recessive contiguous gene deletion syndrome characterised by deafness and sperm dysmotility, caused by the deletion of contiguous genes at 15q15.3.
DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1
TLDR
The identification of another novel nonsyndromic recessive deafness locus demonstrates the high degree of locus heterogeneity for hearing impairment, particularly in the Pakistani population.
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.
TLDR
The results provide strong evidence that STRC gene mutations are an important cause of NSHL-AR in Czech HL patients and are probably the second most common cause of DFNB.
Non‐syndromic, autosomal‐recessive deafness
TLDR
Identification of all genes involved in hereditary hearing loss will help in the understanding of the basic mechanisms underlying normal hearing, in early diagnosis and therapy.
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.
TLDR
It is reported here that mutations in a novel 218-kDa isoform of TRIOBP (TRIO and filamentous actin [F-actin] binding protein) are associated with DFNB28 hearing loss in a total of nine Palestinian families.
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34
TLDR
The whirler (wi) mouse mutant, characterised by deafness and circling behaviour, maps to the corresponding region on the murine chromosome 4, thus suggesting that DFNB31 and whirrer may result from orthologous gene defects.
Genetics of Nonsyndromic Congenital Hearing Loss
TLDR
An overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear is presented.
[Hearing loss due to mutations or lack of the gene coding protein stereocillin].
TLDR
The development of molecular genetics methods confirms the hereditary causes of GJB2-negative patients and expands indications for family counseling.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 20 REFERENCES
Molecular genetics of hearing loss.
TLDR
A presentation of the various deafness forms based on the site of the primary defect: hair cell defects, nonsensory cell defect, and tectorial membrane anomalies is adopted.
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
TLDR
A gene underlying USH1C is identified, encoding a PDZ-domain–containing protein, harmonin, in a subtracted mouse cDNA library derived from inner ear sensory areas, and it is proposed that Ush1C also underlies the DFNB18 form of isolated deafness.
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.
TLDR
The mapping of a novel locus for autosomal recessive, non-syndromal deafness (DFNB16) in three consanguineous families originating from Pakistan and the Middle East is reported.
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness
TLDR
The sequence homologies and predicted structure of otoferlin, the protein encoded by OTOF, suggest its involvement in vesicle membrane fusion in the inner ear, and the expression of the orthologous mouse gene, mainly in the sensory hair cells, indicates that such a role could apply to synaptic vesicles.
Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes
TLDR
It is demonstrated by genetic analysis that twt is actually allelic to Otogtm1Prs, and the molecular and phenotypical description of the twt mouse mutation, Otogtwt, highlights the importance of the acellular membranes in the inner ear mechanotransduction process.
Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.
TLDR
The observations suggest that retinitis pigmentosa of USH1B results from a primary rod and cone defect, and it is suggested that myosin VIIA might play a role in the trafficking of ribbon-synaptic vesicle complexes and the renewal processes of the outer photoreceptor disks.
Targeted disruption of Otog results in deafness and severe imbalance
TLDR
OTOG is supported as a possible candidate gene for a human nonsyndromic form of deafness by generating mice with a targeted disruption of Otog, which demonstrated that in the vestibule, otogelin is required for the anchoring of the otoconial membranes and cupulae to the neuroepithelia.
Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132.
TLDR
This work was supported by grants from the European Community and the Fondo de Investigaciones Sanitarias de la Seguridad Social.
Characterization of otoconin-95, the major protein of murine otoconia, provides insights into the formation of these inner ear biominerals.
TLDR
Otoconin-95 was found to be synthesized by various nonsensory cell types, but not by the supporting cells of the sensory epithelia, which produce the otoconial precursor vesicles, and a model for the formation of the Otoconia is proposed.
Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin–catenins complex
TLDR
Data suggest that myosin VIIA, anchored by vezatin to the cadherin–catenins complex, creates a tension force between adherens junctions and the actin cytoskeleton that is expected to strengthen cell–cell adhesion.
...
1
2
...