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Science 12 June 1998:
Vol. 280. no. 5370, pp. 1753 - 1757
DOI: 10.1126/science.280.5370.1753
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Reports

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 dagger

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.

J. D. Eudy, S. F. Yao, M. Ma-Edmonds, J. J. Cheng, C. B. Talmadge, J. Sumegi, Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA.
M. D. Weston, D. M. Hoover, K. W. Beisel, W. J. Kimberling, Department of Genetics, Boystown National Research Hospital, Omaha, NE 68131, USA.
H. L. Rehm, Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
D. Yan and A. Swaroop, Department of Ophthalmology, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA.
I. Ahmad, Department of Cell Biology and Anatomy, University of Nebraska Medical Center, Omaha, NE 68198, USA.
C. Ayuso, Fundacion Jimenez Diaz, Avenida de los Reyes Catolicos, 2, 28003 Madrid, Spain.
C. Cremers, Katholieke Universiteit Nijmegen, Sint Radboudziekenhuis, Philips van Leydeniaan 15, 6500 NB Nijmegen, The Netherlands.
S. Davenport, 5801 Southwood Drive, Bloomington, MN 55437-1739.
C. Moller, Ear Nose and Throat Clinic, University Hospital (RIL), S-58180 Linkoping, Sweden.
M. Tamayo, Unidad de Genetica Clinica, Universidad Javeriana, Carrera 7 # 40-62 (2o.Piso), Bogota, Colombia.
C. C. Morton, Department of Obstetrics, Gynecology and Reproductive Biology and Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
*   These authors contributed equally to this work.

dagger    To whom correspondence should be addressed. E-mail: jsumegi{at}mail.unmc.edu

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