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Article

The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.

Genes - 29 Jan 2026

Goto Shinichi, Sasaki Akira, Nishio Shin-Ya, Shinkawa Chikako, Oda Kiyoshi, Wada Tetsuro, Ishikawa Kotaro, Ikezono Tetsuo, Oka Shin-Ichiro, Nishiyama Nobuhiro, Ito Taku, Kobayshi Marina, Kumakawa Kozo, Sakuma Naoko, Nakanishi Hiroshi, Morimoto Chihiro, Uehara Natsumi, Okazaki Testuya, Sugahara Kazuma, Nakamura Takeshi, Usami Shin-Ichi

Abstract excerpt

Background/Objectives: MYH9 gene variants cause MYH9-related disease (MYH9-RD), which is also known as Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, and Sebastian syndrome. MYH9-RD is characterized by sensorineural hearing loss, macrothrombocytopenia, thrombocytopenia, hematuria/proteinuria, glomerulonephritis, cataracts purpura, and mucosal bleeding. In addition, the MYH9 gene is also known to be...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41751538
DOI: 10.3390/genes17020154
PMCID: PMC12941242

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.PMID 41751538Read ↗

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A novel MYH9 mutation related to non-syndromic delayed post-lingual sensorineural hearing loss.Semantic proximity Read ↗

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.Semantic proximity Read ↗

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.Semantic proximity Read ↗

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