Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.

doi:10.1002/ajmg.a.62216

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Article

Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.

American journal of medical genetics. Part A - 1 Jul 2021

Hanafusa Hiroaki, Hidaka Yoshihiko, Yamaguchi Tomomi, Shimojo Hisashi, Tsukahara Takanori, Murase Tsubasa, Matsuoka Daisuke, Chiba Nao, Shimada Shun, Morokawa Hirokazu, Omori Norio, Minoura Hironori, Nagano China, Takano Kyoko, Nakamura Katsuya, Wakui Keiko, Fukushima Yoshimitsu, Uehara Takeshi, Nakazawa Yozo, Iijima Kazumoto, Nozu Kandai, Kosho Tomoki

Abstract excerpt

Transient receptor potential channel C6 encoded by TRPC6 is involved in slit diaphragm formation in podocytes, and abnormalities of the TRPC6 protein cause various glomerular diseases. The first identified pathogenic variant of TRPC6 was found to cause steroid-resistant nephrotic syndrome that typically developed in adulthood and then slowly led to end-stage renal disease, along with a renal pathology of focal...

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PMID: 33884742
DOI: 10.1002/ajmg.a.62216

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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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