WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis

PLoS One. 2018 Mar 12;13(3):e0193359. doi: 10.1371/journal.pone.0193359. eCollection 2018.

Abstract

A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. To date, more than 40 different mutations have been reported to be responsible for DFNA6/14/38. In the present study, WFS1 variants were screened in a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA6/14/38 and Wolfram-like syndrome. Massively parallel DNA sequencing of 68 target genes was performed in 2,549 unrelated Japanese HL patients to identify genomic variations responsible for HL. The detailed clinical features in patients with WFS1 variants were collected from medical charts and analyzed. We successfully identified 13 WFS1 variants in 19 probands: eight of the 13 variants were previously reported mutations, including three mutations (p.A684V, p.K836N, and p.E864K) known to cause Wolfram-like syndrome, and five were novel mutations. Variants were detected in 15 probands (2.5%) in 602 families with presumably autosomal dominant or mitochondrial HL, and in four probands (0.7%) in 559 sporadic cases; however, no variants were detected in the other 1,388 probands with autosomal recessive or unknown family history. Among the 30 individuals possessing variants, marked variations were observed in the onset of HL as well as in the presence of progressive HL and tinnitus. Vestibular symptoms, which had been rarely reported, were present in 7 out of 30 (23%) of the affected individuals. The most prevalent audiometric configuration was low-frequency type; however, some individuals had high-frequency HL. Haplotype analysis in three mutations (p.A716T, p.K836T, and p.E864K) suggested that the mutations occurred at these mutation hot spots. The present study provided new insights into the audiovestibular phenotypes in patients with WFS1 mutations.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Asian People / genetics*
  • Audiometry
  • Child
  • DNA Mutational Analysis / methods*
  • Female
  • Haplotypes
  • Hearing Loss, Sensorineural / genetics*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Pedigree
  • Sequence Analysis, DNA / methods*
  • Young Adult

Substances

  • Membrane Proteins
  • wolframin protein

Supplementary concepts

  • Nonsyndromic sensorineural hearing loss

Grants and funding

This study was supported by a Health and Labour Sciences Research Grant for Research on rare and intractable diseases (H24-Nanchito(Nan)-Ippan-032) and Comprehensive Research on Disability Health and Welfare (H25-Kanakaku-Ippan-002) from the Ministry of Health, Labour and Welfare of Japan (to S.U.), by a Grant-in-Aid from Japan Agency for Medical Research and Development (to S.U.) (16ek0109114h0002, 16kk0205010h001), and by a Grant-in-Aid for Scientific Research (A) (22249057) from the Ministry of Education, Science and Culture of Japan (to S.U.). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.