A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25

• Published in: Human genetics Vol. 110; no. 4; pp. 348 - 350
• Main Authors: MUSTAPHA, Mirna, CHOUERY, Eliane, WEIL, Dominique, TORCHARD-PAGNEZ, Delphine, NOUAILLE, Sylvie, KHRAIS, Awni, SAYEGH, Fouad N, MEGARBANE, André, LOISELET, Jacques, LATHROP, Mark, PETIT, Christine
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.04.2002; Berlin Springer Nature B.V; New York, NY
• Subjects: Adult; Biological and medical sciences; Chromosome Mapping; Chromosomes, Human, Pair 17; Female; Genetic Linkage; Hearing Loss, Sensorineural - genetics; Humans; Male; Medical sciences; Ophthalmology; Pedigree; Retinitis Pigmentosa - genetics; Retinopathies; Syndrome; Jordan; Asia; Genetic mapping; Human; Eye disease; Retinopathy; Linkage; Chromosome E17; Family study; Usher syndrome; Nutrition disorder; ENT disease; Genetic disease

Usher syndrome (USH) is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. This syndrome is both clinically and genetically heterogeneous. Three clinical types have been described of which type I (USH1) i...