Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib

Mol Cell Probes. 1998 Dec;12(6):417-20. doi: 10.1006/mcpr.1998.0202.

Abstract

A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be responsible for the disease since it leads to a truncated protein that presumably has no function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Codon, Terminator / genetics*
  • Cysteine / genetics*
  • DNA / analysis
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Deafness / congenital
  • Deafness / genetics*
  • Dyneins
  • Exons / genetics
  • Female
  • Genes, Recessive / genetics
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Myosin VIIa
  • Myosins / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Retinitis Pigmentosa / congenital
  • Retinitis Pigmentosa / genetics*
  • Syndrome

Substances

  • Codon, Terminator
  • MYO7A protein, human
  • Myosin VIIa
  • DNA
  • Myosins
  • Dyneins
  • Cysteine