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Article

Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.

PLoS genetics - 1 Apr 2020

Mutai Hideki, Wasano Koichiro, Momozawa Yukihide, Kamatani Yoichiro, Miya Fuyuki, Masuda Sawako, Morimoto Noriko, Nara Kiyomitsu, Takahashi Satoe, Tsunoda Tatsuhiko, Homma Kazuaki, Kubo Michiaki, Matsunaga Tatsuo

Abstract excerpt

Hereditary hearing loss is challenging to diagnose because of the heterogeneity of the causative genes. Further, some genes involved in hereditary hearing loss have yet to be identified. Using whole-exome analysis of three families with congenital, severe-to-profound hearing loss, we identified a missense variant of SLC12A2 in five affected members of one family showing a dominant inheritance mode, along with de...

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PMID: 32294086
DOI: 10.1371/journal.pgen.1008643
PMCID: PMC7159186

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