Journal Article

Myosin VIIA Gene: Heterogeneity of the Mutations Responsible for Usher Syndrome Type IB

Gallia Lévy, Fabienne Levi-Acobas, Stéphane Blanchard, Sylvie Gerber, Dominique Larget-Piet, Viviane Chenal, Xue-Zhong Liu, Valerie Newton, Karen P. Steel, Steve D. M. Brown, Arnold Munnich, Josseline Kaplan, Christine Petit and Dominique Weil

in Human Molecular Genetics

Volume 6, issue 1, pages 111-116
Published in print January 1997 | ISSN: 0964-6906
Published online January 1997 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/6.1.111
Myosin VIIA Gene: Heterogeneity of the Mutations Responsible for Usher Syndrome Type IB

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Usher syndrome is recognized as the most frequent cause of hereditary deaf-blindness. Usher syndrome type I (USH1), the most severe form of the disease, is characterized by profound congenital sensorineural deafness, constant vestibular dysfunction, and retinitis pigmentosa of prepubertal onset. This form is genetically heterogeneous and five loci (USH1A-E) have been mapped thusfar. However, only the gene responsible for USH1B (which accounts for ∼75% of USH1 cases) has been characterized. It encodes a long-tailed unconventional myosin, myosin VIIA, with a predicted 2215 amino acid sequence. Primers covering the complete myosin VIIA coding sequence as well as the 3′ non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1. Four novel mutations were thereby identified. The possibility should now be considered of a sequence-based prenatal diagnosis in some of the families affected by this very severe form of Usher syndrome.

Journal Article.  2996 words.  Illustrated.

Subjects: Genetics and Genomics

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