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

Hum Genet. 2020 Oct;139(10):1315-1323. Epub 2020 May 07

W Daniel Walls ¹ , Hideaki Moteki ² , Taylor R Thomas ¹ , Shin-Ya Nishio ² , Hidekane Yoshimura ² ,

W Daniel Walls ¹ , Hideaki Moteki ² , Taylor R Thomas ¹ , Shin-Ya Nishio ² , Hidekane Yoshimura ² , Yoichiro Iwasa ² , Kathy L Frees ¹ , Carla J Nishimura ¹ , Hela Azaiez ¹ , Kevin T Booth ³ , Robert J Marini ¹ , Diana L Kolbe ¹ , A Monique Weaver ¹ , Amanda M Schaefer ¹ , Kai Wang ⁴ , Terry A Braun ⁵ , Shin-Ichi Usami ² , Peter G Barr-Gillespie ⁶ , Guy P Richardson ⁷ , Richard J Smith ⁸ , Thomas L Casavant ⁹

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Author information

¹ Molecular Otolaryngology and Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA.
² Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan.
³ Department of Neurobiology, Harvard Medical School, Boston, MA, 02215, USA.
⁴ Department of Biostatistics, University of Iowa, Iowa City, IA, 52242, USA.
⁵ Department of Biomedical Engineering, University of Iowa, Iowa City, IA, 52242, USA.
⁶ Vollum Institute, Oregon Health & Science University, Portland, OR, 97239, USA.
⁷ Sussex Neuroscience, School of Life Sciences, University of Sussex, Brighton, UK.
⁸ Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu.
⁹ Department of Electrical and Computer Engineering, University of Iowa, Iowa City, IA, 52242, USA.

摘要

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.

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