RGD Reference Report - A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. - Rat Genome Database

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A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Authors: Verpy, E  Leibovici, M  Zwaenepoel, I  Liu, XZ  Gal, A  Salem, N  Mansour, A  Blanchard, S  Kobayashi, I  Keats, BJ  Slim, R  Petit, C 
Citation: Verpy E, etal., Nat Genet. 2000 Sep;26(1):51-5.
RGD ID: 1600453
Pubmed: PMID:10973247   (View Abstract at PubMed)
DOI: DOI:10.1038/79171   (Journal Full-text)

Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, vestibular dysfunction and blindness (due to progressive retinitis pigmentosa)1. Six different USH1 loci have been reported. So far, only MYO7A (USH1B), encoding myosin VIIA, has been identified as a gene whose mutation causes the disease. Here, we report a gene underlying USH1C (MIM 276904), a USH1 subtype described in a population of Acadian descendants from Louisiana and in a Lebanese family. We identified this gene (USH1C), encoding a PDZ-domain-containing protein, harmonin, in a subtracted mouse cDNA library derived from inner ear sensory areas. In patients we found a splice-site mutation, a frameshift mutation and the expansion of an intronic variable number of tandem repeat (VNTR). We showed that, in the mouse inner ear, only the sensory hair cells express harmonin. The inner ear Ush1c transcripts predicted several harmonin isoforms, some containing an additional coiled-coil domain and a proline- and serine-rich region. As several of these transcripts were absent from the eye, we propose that USH1C also underlies the DFNB18 form of isolated deafness.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Ush1cRatsensorineural hearing loss susceptibilityISODNA:splice-site mutation and frameshift mutationRGD 
Ush1cMousesensorineural hearing loss susceptibilityISODNA:splice-site mutation and frameshift mutationRGD 
USH1CHumanUsher syndrome type 1C  IAGP DNA:insertion more ...RGD 
Ush1cRatUsher syndrome type 1C  ISOUSH1C (Homo sapiens)DNA:insertion more ...RGD 
Ush1cMouseUsher syndrome type 1C  ISOUSH1C (Homo sapiens)DNA:insertion more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ush1c  (USH1 protein network component harmonin)

Genes (Mus musculus)
Ush1c  (USH1 protein network component harmonin)

Genes (Homo sapiens)
USH1C  (USH1 protein network component harmonin)


Additional Information