Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

PLoS One. 2017 May 4;12(5):e0176516. doi: 10.1371/journal.pone.0176516. eCollection 2017.

Abstract

The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B). Here, we report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutations. Five mutations (c.6025delG, c.6229T>A, c.3500T>A, c.5617C>T and c.4487C>A) were identified in these families, the latter presenting two differently affected branches. Multiple bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations. In conclusion, the absence of vestibular and retinal symptom in the affected patients suggests that these families have the isolated non-syndromic hearing loss DFNB2 (nonsyndromic autosomal recessive hearing loss) presentation, instead of USH1B.

MeSH terms

  • Adult
  • Exome
  • Female
  • Heterozygote*
  • Humans
  • Male
  • Models, Molecular
  • Morocco
  • Mutation*
  • Myosin VIIa
  • Myosins / chemistry
  • Myosins / genetics*
  • Pedigree
  • Usher Syndromes / genetics*

Substances

  • MYO7A protein, human
  • Myosin VIIa
  • Myosins

Supplementary concepts

  • Usher Syndrome, Type Ib

Grants and funding

This work was supported by Pasteur Institute of Morocco (IPM) and a collaborative project between the French National Institute of Health and Medical Research (INSERM) and the Moroccan National Centre for Scientific and Technical Research (CNRST).