Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

• Published in: Science (American Association for the Advancement of Science) Vol. 280; no. 5370; pp. 1753 - 1757
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Washington, DC American Society for the Advancement of Science 12.06.1998; American Association for the Advancement of Science; The American Association for the Advancement of Science
• Subjects: Amino Acid Sequence; Amino acids; Animals; Biological and medical sciences; Blindness; Cell Adhesion Molecules - chemistry; Chromosome Mapping; Chromosomes, Human, Pair 1; Cochlea - chemistry; Coding; Complementary DNA; Deafness; Developed Nations; Epidermal Growth Factor - chemistry; Extracellular Matrix Proteins - chemistry; Extracellular Matrix Proteins - genetics; Extracellular Matrix Proteins - physiology; Female; Fibronectins - chemistry; Frameshift Mutation; Gels; Gene Expression; Genes; Genes, Recessive; Genetic aspects; Genetic disorders; Genetic mutation; Genomics; Glycosylation; Hearing disorders; Hearing Impairments; Hearing Loss, Sensorineural - genetics; Humans; Laminin - chemistry; Libraries; Male; Medical sciences; Medicin; Medicine; Molecular Sequence Data; Mutation; Open reading frames; Ophthalmology; Patients; Pedigree; Polymerase chain reaction; Proteins; Retina; Retina - chemistry; Retinitis Pigmentosa - genetics; Retinopathies; Syndrome; Tumor Cells, Cultured; Usher syndromes; Usher's syndrome; Vision disorders; Visual Impairments; Genetic mapping; Human; Retinopathy; Nucleotide sequence; Nutrition disorder; Cell adhesion molecule; Chromosome A1; Homology; Genetic disease; Eye disease; Gene; Domain structure; Usher syndrome; ENT disease; Genetics; Extracellular matrix; Mutation
• ISSN: 0036-8075; 1095-9203; 1095-9203
• DOI: 10.1126/science.280.5370.1753

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.