Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

James D. Eudy, Michael D. Weston, Su Fang Yao, Denise M. Hoover, Heidi L. Rehm, Manling Ma-Edmonds, Denise Yan, Iqbal Ahmad, Jason J. Cheng, Carmen Ayuso, Cor Cremers, Sandra Davenport, Claes Moller, Catherine B. Talmadge, Kirk W. Beisel, Marta Tamayo, Cynthia C. Morton, Anand Swaroop, William J. Kimberling, Janos Sumegi

Research output: Contribution to journalArticlepeer-review

267 Scopus citations

Abstract

Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.

Original languageEnglish (US)
Pages (from-to)1753-1757
Number of pages5
JournalScience
Volume280
Issue number5370
DOIs
StatePublished - Jun 12 1998

All Science Journal Classification (ASJC) codes

  • General

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