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

doi:10.1126/science.280.5370.1753

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

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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 language	English (US)
Pages (from-to)	1753-1757
Number of pages	5
Journal	Science
Volume	280
Issue number	5370
DOIs	https://doi.org/10.1126/science.280.5370.1753
State	Published - Jun 12 1998

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Eudy, J. D., Weston, M. D., Yao, S., Hoover, D. M., Rehm, H. L., Ma-Edmonds, M., Yan, D., Ahmad, I., Cheng, J. J., Ayuso, C., Cremers, C., Davenport, S., Moller, C., Talmadge, C. B., Beisel, K. W., Tamayo, M., Morton, C. C., Swaroop, A., Kimberling, W. J., & 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

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

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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.",

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

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doi = "10.1126/science.280.5370.1753",

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AU - Yao, SuFang

AU - Hoover, Denise M.

AU - Rehm, Heidi L.

AU - Ma-Edmonds, Manling

AU - Yan, Denise

AU - Ahmad, Iqbal

AU - Cheng, Jason J.

AU - Ayuso, Carmen

AU - Cremers, Cor

AU - Davenport, Sandra

AU - Moller, Claes

AU - Talmadge, Catherine B.

AU - Beisel, Kirk W.

AU - Tamayo, Marta

AU - Morton, Cynthia C.

AU - Swaroop, Anand

AU - Kimberling, William J.

AU - Sumegi, Janos

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AB - 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.

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

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