Prevalence and clinical features of hearing loss caused by EYA4 variants
| Autor: | Hirofumi Sakaguchi, Yuika Sakurai, Chie Oshikawa, Kenji Ohyama, Shin-ya Nishio, Yasuhiro Arai, Hideaki Moteki, Jun Shinagawa, Takashi Ishino, Shin-ichi Usami, Satoshi Iwasaki, Masahiro Takahashi, Natsumi Uehara, Koshi Otsuki, Yumi Ohta, Shin Masuda, Satoko Abe, Naoko Sakuma |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Proband Male Genetic testing Hearing loss media_common.quotation_subject Hearing Loss Sensorineural Nonsense lcsh:Medicine Biology Article Frameshift mutation Cohort Studies 03 medical and health sciences 0302 clinical medicine Genotype-phenotype distinction Japan Genetics research medicine otorhinolaryngologic diseases Prevalence Missense mutation Humans lcsh:Science Gene media_common Genetics Multidisciplinary Massive parallel sequencing lcsh:R 030104 developmental biology Mutation Trans-Activators lcsh:Q Female medicine.symptom 030217 neurology & neurosurgery |
| Zdroj: | Scientific Reports Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020) |
| ISSN: | 2045-2322 |
| Popis: | Variants in the EYA4 gene are known to lead to autosomal dominant non-syndromic hereditary hearing loss, DFNA10. To date, 30 variants have been shown to be responsible for hearing loss in a diverse set of nationalities. To better understand the clinical characteristics and prevalence of DFNA10, we performed genetic screening for EYA4 mutations in a large cohort of Japanese hearing loss patients. We selected 1,336 autosomal dominant hearing loss patients among 7,408 unrelated Japanese hearing loss probands and performed targeted genome enrichment and massively parallel sequencing of 68 target genes for all patients. Clinical information of cases with mutations in EYA4 was gathered and analyzed from medical charts. Eleven novel EYA4 variants (three frameshift variants, three missense variants, two nonsense variants, one splicing variant, and two single-copy number losses) and two previously reported variants were found in 12 probands (0.90%) among the 1,336 autosomal dominant hearing loss families. The audiometric configuration of truncating variants tends to deteriorate for all frequencies, whereas that of non-truncating variants tends to show high-frequency hearing loss, suggesting a new correlation between genotype and phenotype in DFNA10. The rate of hearing loss progression caused by EYA4 variants was considered to be 0.63 dB/year, as found in this study and previous reports. |
| Databáze: | OpenAIRE |
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