Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing

Int J Pediatr Otorhinolaryngol. 2018 Jan:104:186-190. doi: 10.1016/j.ijporl.2017.11.020. Epub 2017 Nov 22.

Abstract

The current study aims to identify the pathogenic sites in a core pedigree of Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome sequencing (WES). Mutations were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing. Two pathogenic variations (c.849+2T>C and c.5994G>A) in MYO7A were successfully identified and individually separated from parents. One variant (c.849+2T>C) was nonsense mutation, causing the protein terminated in advance, and the other one (c.5994G>A) located near the boundary of exon could cause aberrant splicing. This study provides a meaningful exploration for identification of clinical core genetic pedigrees.

Keywords: MYO7A; Usher syndrome; Whole exome sequencing.

MeSH terms

  • Adolescent
  • Child
  • Codon, Nonsense
  • Exome Sequencing / methods
  • Female
  • Heterozygote
  • Humans
  • Male
  • Mutation
  • Myosin VIIa
  • Myosins / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Usher Syndromes / genetics*

Substances

  • Codon, Nonsense
  • MYO7A protein, human
  • Myosin VIIa
  • Myosins