RGD Reference Report - Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. - Rat Genome Database

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Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

Authors: Auslender, N  Bandah, D  Rizel, L  Behar, DM  Shohat, M  Banin, E  Allon-Shalev, S  Sharony, R  Sharon, D  Ben-Yosef, T 
Citation: Auslender N, etal., Genet Test. 2008 Jun;12(2):289-94. doi: 10.1089/gte.2007.0107.
RGD ID: 8547956
Pubmed: PMID:18452394   (View Abstract at PubMed)
DOI: DOI:10.1089/gte.2007.0107   (Journal Full-text)

Type 2 Usher syndrome (USH2) is a recessively inherited disorder, characterized by the combination of early onset, moderate-to-severe, sensorineural hearing loss, and vision impairment due to retinitis pigmentosa. From 74% to 90% of USH2 cases are caused by mutations of the USH2A gene. USH2A is composed of 72 exons, encoding for usherin, an extracellular matrix protein, which plays an important role in the development and maintenance of neurosensory cells in both retina and cochlea. To date, over 70 pathogenic mutations of USH2A have been reported in individuals of various ethnicities. Many of these mutations are rare private mutations segregating in single families. The aim of the current work was to investigate the genetic basis for USH2 among Jews of various origins. We found that four USH2A mutations (c.239-240insGTAC, c.1000C>T, c.2209C>T, and c.12067-2A>G) account for 64% of mutant alleles underlying USH2 in Jewish families of non-Ashkenazi descent. Considering the very large size of the USH2A gene and the high number of mutations detected in USH2 patients worldwide, our findings have significant implications for genetic counseling and carrier screening in various Jewish populations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Usher syndrome susceptibilityIAGP 8547956DNA:snps more ...RGD 
Usher syndrome susceptibilityISOUSH2A (Homo sapiens)8547956; 8547956DNA:snps more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Rod-cone dystrophy susceptibilityIAGP 8547956DNA:snps more ...RGD 
Sensorineural hearing impairment susceptibilityIAGP 8547956DNA:snps more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Ush2a  (usherin)

Genes (Mus musculus)
Ush2a  (usherin)

Genes (Homo sapiens)
USH2A  (usherin)

Objects referenced in this article
Gene SERPINE1 serpin family E member 1 Homo sapiens

Additional Information