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Article

Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease.

Kidney international - 1 Jul 2010

Sekine Takashi, Konno Mutsuko, Sasaki Satoshi, Moritani Suzuko, Miura Takuma, Wong Wai-shan, Nishio Hisanori, Nishiguchi Toshihiro, Ohuchi Miyako Yoshinari, Tsuchiya Shigeru, Matsuyama Takeshi, Kanegane Hirokazu, Ida Komei, Miura Kenichiro, Harita Yutaka, Hattori Motoshi, Horita Shigeru, Igarashi Takashi, Saito Hidehiko, Kunishima Shinji

Abstract excerpt

Recent linkage analyses of nondiabetic African-American patients with focal segmental glomerulosclerosis (FSGS) have identified MYH9, encoding nonmuscle myosin heavy chain IIA (NMMHC-IIA), as a gene having a critical role in this disease. Abnormalities of the MYH9 locus also underlie rare autosomal dominant diseases such as May-Hegglin anomaly, and Sebastian, Epstein (EPS), and Fechtner (FTNS) syndromes that are...

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Source

Identifiers

PMID: 20200500
DOI: 10.1038/ki.2010.21

Genes

MYH9

Provenance

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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Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease.PMID 20200500Read ↗

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Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.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 ↗

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