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Article

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss.

Scientific reports - 27 Apr 2020

Miyajima Hiroki, Moteki Hideaki, Day Timothy, Nishio Shin-Ya, Murata Takaaki, Ikezono Tetsuo, Takeda Hidehiko, Abe Satoko, Iwasaki Satoshi, Takahashi Masahiro, Naito Yasushi, Yamazaki Hiroshi, Kanda Yukihiko, Kitajiri Shin-Ichiro, Usami Shin-Ichi

Abstract excerpt

Human ACTG1 mutations are associated with high-frequency hearing loss, and patients with mutations in this gene are good candidates for electric acoustic stimulation. To better understand the genetic etiology of hearing loss cases, massively parallel DNA sequencing was performed on 7,048 unrelated Japanese hearing loss probands. Among 1,336 autosomal dominant hearing loss patients, we identified 15 probands...

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Identifiers

PMID: 32341388
DOI: 10.1038/s41598-020-63690-5
PMCID: PMC7184572

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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