RGD Reference Report - Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. - Rat Genome Database

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Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

Authors: Fields, RR  Zhou, G  Huang, D  Davis, JR  Moller, C  Jacobson, SG  Kimberling, WJ  Sumegi, J 
Citation: Fields RR, etal., Am J Hum Genet 2002 Sep;71(3):607-17.
RGD ID: 634439
Pubmed: PMID:12145752   (View Abstract at PubMed)
PMCID: PMC449697   (View Article at PubMed Central)
DOI: DOI:10.1086/342098   (Journal Full-text)

Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa. The disease gene was localized to 3q25 and recently was identified by positional cloning. In the present study, we have revised the structure of the USH3 gene, including a new translation start site, 5' untranslated region, and a transcript encoding a 232-amino acid protein. The mature form of the protein is predicted to contain three transmembrane domains and 204 residues. We have found four new disease-causing mutations, including one that appears to be relatively common in the Ashkenazi Jewish population. We have also identified mouse (chromosome 3) and rat (chromosome 2) orthologues, as well as two human paralogues on chromosomes 4 and 10.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
retinitis pigmentosa  IAGP 634439 RGD 
Usher syndrome type 3A  IAGP 634439 RGD 
Usher syndrome type 3A  ISOCLRN1 (Homo sapiens)634439; 634439 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Clrn1  (clarin 1)

Genes (Mus musculus)
Clrn1  (clarin 1)

Genes (Homo sapiens)
CLRN1  (clarin 1)


Additional Information