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Genetic background in late-onset sensorineural hearing loss patients.

Authors :
Uehara N
Fujita T
Yamashita D
Yokoi J
Katsunuma S
Kakigi A
Nishio SY
Nibu KI
Usami SI
Source :
Journal of human genetics [J Hum Genet] 2022 Apr; Vol. 67 (4), pp. 223-230. Date of Electronic Publication: 2021 Nov 26.
Publication Year :
2022

Abstract

Genetic testing for congenital or early-onset hearing loss patients has become a common diagnostic option in many countries. On the other hand, there are few late-onset hearing loss patients receiving genetic testing, as late-onset hearing loss is believed to be a complex disorder and the diagnostic rate for genetic testing in late-onset patients is lower than that for the congenital cases. To date, the etiology of late-onset hearing loss is largely unknown. In the present study, we recruited 48 unrelated Japanese patients with late-onset bilateral sensorineural hearing loss, and performed genetic analysis of 63 known deafness gene using massively parallel DNA sequencing. As a result, we identified 25 possibly causative variants in 29 patients (60.4%). The present results clearly indicated that various genes are involved in late-onset hearing loss and a significant portion of cases of late-onset hearing loss is due to genetic causes. In addition, we identified two interesting cases for whom we could expand the phenotypic description. One case with a novel MYO7A variant showed a milder phenotype with progressive hearing loss and late-onset retinitis pigmentosa. The other case presented with Stickler syndrome with a mild phenotype caused by a homozygous frameshift COL9A3 variant. In conclusion, comprehensive genetic testing for late-onset hearing loss patients is necessary to obtain accurate diagnosis and to provide more appropriate treatment for these patients.<br /> (© 2021. The Author(s).)

Details

Language :
English
ISSN :
1435-232X
Volume :
67
Issue :
4
Database :
MEDLINE
Journal :
Journal of human genetics
Publication Type :
Academic Journal
Accession number :
34824372
Full Text :
https://doi.org/10.1038/s10038-021-00990-2