Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome typeI: Confirmation of genetic heterogeneity

Citation
Ar. Janecke et al., Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome typeI: Confirmation of genetic heterogeneity, HUM MUTAT, 13(2), 1999, pp. 133-140
Citations number
22
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN MUTATION
ISSN journal
10597794 → ACNP
Volume
13
Issue
2
Year of publication
1999
Pages
133 - 140
Database
ISI
SICI code
1059-7794(1999)13:2<133:TNMVMI>2.0.ZU;2-6
Abstract
Usher syndrome is a heterogeneous autosomal recessive trait and the most co mmon cause of hereditary deaf-blindness. Usher syndrome type I (USH1) is ch aracterised by profound congenital sensorineural hearing loss, vestibular d ysfunction, and prepubertal onset of retinitis pigmentosa. Of the at least six different loci for USH1, USH1B maps on chromosome 11q13, and the MYO7A gene has been shown to be defective in USH1B. MYO7A encodes myosin VIIA, an unconventional myosin, and it consists of 48 coding exons. In this study, MYO7A was analysed in 34 unrelated Usher type I patients by single-strand c onformation polymorphism analysis and direct sequencing. We identified a to tal of 12 novel and unique mutations, all single base changes. In addition, we found a previously reported nonsense mutation (C31X) on nine alleles of a total of six patients from Denmark. Hum Mutat 13:133-140, 1999. (C) 1999 Wiley-Liss, Inc.