A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

W. Daniel Walls, Hideaki Moteki, Taylor R. Thomas, Shin ya Nishio, Hidekane Yoshimura, Yoichiro Iwasa, Kathy L. Frees, Carla J. Nishimura, Hela Azaiez, Kevin T. Booth, Robert J. Marini, Diana L. Kolbe, A. Monique Weaver, Amanda M. Schaefer, Kai Wang, Terry A. Braun, Shin ichi Usami, Peter G. Barr-Gillespie, Guy P. Richardson, Richard J. SmithThomas L. Casavant

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


We present detailed comparative analyses to assess population-level differences in patterns of genetic deafness between European/American and Japanese cohorts with non-syndromic hearing loss. One thousand eighty-three audiometric test results (921 European/American and 162 Japanese) from members of 168 families (48 European/American and 120 Japanese) with non-syndromic hearing loss secondary to pathogenic variants in one of three genes (KCNQ4, TECTA, WFS1) were studied. Audioprofile characteristics, specific mutation types, and protein domains were considered in the comparative analyses. Our findings support differences in audioprofiles driven by both mutation type (non-truncating vs. truncating) and ethnic background. The former finding confirms data that ascribe a phenotypic consequence to different mutation types in KCNQ4; the latter finding suggests that there are ethnic-specific effects (genetic and/or environmental) that impact gene-specific audioprofiles for TECTA and WFS1. Identifying the drivers of ethnic differences will refine our understanding of phenotype–genotype relationships and the biology of hearing and deafness.

Original languageEnglish (US)
Pages (from-to)1315-1323
Number of pages9
JournalHuman genetics
Issue number10
StatePublished - Oct 1 2020

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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