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

James D Eudy, Michael D. Weston, SuFang 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 journalArticle

251 Citations (Scopus)

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

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Usher Syndromes
Extracellular Matrix Proteins
Genetic Databases
Mutation
Retinitis Pigmentosa
Sensorineural Hearing Loss
Cell Adhesion Molecules
Human Chromosomes
Laminin
Fibronectins
Epidermal Growth Factor
Basement Membrane
Genes
Extracellular Matrix
Proteins

ASJC Scopus subject areas

  • General

Cite this

Eudy, J. D., Weston, M. D., Yao, S., Hoover, D. M., Rehm, H. L., Ma-Edmonds, M., ... Sumegi, J. (1998). Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science, 280(5370), 1753-1757. https://doi.org/10.1126/science.280.5370.1753

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. / Eudy, James D; Weston, Michael D.; Yao, SuFang; Hoover, Denise M.; Rehm, Heidi L.; Ma-Edmonds, Manling; Yan, Denise; Ahmad, Iqbal; Cheng, Jason J.; Ayuso, Carmen; Cremers, Cor; Davenport, Sandra; Moller, Claes; Talmadge, Catherine B.; Beisel, Kirk W.; Tamayo, Marta; Morton, Cynthia C.; Swaroop, Anand; Kimberling, William J.; Sumegi, Janos.

In: Science, Vol. 280, No. 5370, 12.06.1998, p. 1753-1757.

Research output: Contribution to journalArticle

Eudy, JD, Weston, MD, Yao, S, Hoover, DM, Rehm, HL, Ma-Edmonds, M, Yan, D, Ahmad, I, Cheng, JJ, Ayuso, C, Cremers, C, Davenport, S, Moller, C, Talmadge, CB, Beisel, KW, Tamayo, M, Morton, CC, Swaroop, A, Kimberling, WJ & Sumegi, J 1998, 'Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa', Science, vol. 280, no. 5370, pp. 1753-1757. https://doi.org/10.1126/science.280.5370.1753
Eudy, James D ; Weston, Michael D. ; Yao, SuFang ; Hoover, Denise M. ; Rehm, Heidi L. ; Ma-Edmonds, Manling ; Yan, Denise ; Ahmad, Iqbal ; Cheng, Jason J. ; Ayuso, Carmen ; Cremers, Cor ; Davenport, Sandra ; Moller, Claes ; Talmadge, Catherine B. ; Beisel, Kirk W. ; Tamayo, Marta ; Morton, Cynthia C. ; Swaroop, Anand ; Kimberling, William J. ; Sumegi, Janos. / Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. In: Science. 1998 ; Vol. 280, No. 5370. pp. 1753-1757.
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