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, Dominique Weil

Research output: Contribution to journalArticlepeer-review

78 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)111-116
Number of pages6
JournalHuman molecular genetics
Issue number1
StatePublished - Jan 1997
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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