Journal article
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations
Human genetics, Vol.139(10), pp.1315-1323
10/2020
DOI: 10.1007/s00439-020-02174-y
PMCID: PMC7487054
PMID: 32382995
Abstract
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.
Details
- Title: Subtitle
- A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations
- Creators
- W Daniel Walls - University of IowaHidekane Yoshimura - Shinshu UniversityYoichiro Iwasa - Shinshu UniversityKathy L Frees - University of IowaCarla J Nishimura - University of IowaHideaki Moteki - Shinshu UniversityTaylor R Thomas - University of IowaHela Azaiez - University of IowaKevin T Booth - Harvard UniversityShin-Ya Nishio - Shinshu UniversityDiana L Kolbe - University of IowaKai Wang - University of IowaTerry A Braun - University of IowaRichard J Smith - University of IowaThomas L Casavant - University of IowaRobert J Marini - University of IowaA Monique Weaver - University of IowaAmanda M Schaefer - University of IowaShin-Ichi Usami - Shinshu UniversityGuy P Richardson - University of SussexPeter G Barr-Gillespie - Oregon Health & Science University
- Resource Type
- Journal article
- Publication Details
- Human genetics, Vol.139(10), pp.1315-1323
- DOI
- 10.1007/s00439-020-02174-y
- PMID
- 32382995
- PMCID
- PMC7487054
- NLM abbreviation
- Hum Genet
- ISSN
- 0340-6717
- eISSN
- 1432-1203
- Grant note
- P30 ES005605 / NIEHS NIH HHS T32 GM008629 / NIGMS NIH HHS R01 DC012049 / NIDCD NIH HHS R01 DC002842 / NIDCD NIH HHS
- Language
- English
- Date published
- 10/2020
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Biostatistics; Otolaryngology; Internal Medicine; Iowa Institute of Human Genetics
- Record Identifier
- 9984197001102771
Metrics
32 Record Views