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

Autor: Hisashi Shimojo, Yoshihiko Hidaka, Norio Omori, Tomomi Yamaguchi, Daisuke Matsuoka, Kazumoto Iijima, Takeshi Uehara, Yozo Nakazawa, Tomoki Kosho, Hirokazu Morokawa, Kandai Nozu, China Nagano, Hiroaki Hanafusa, Yoshimitsu Fukushima, Keiko Wakui, Katsuya Nakamura, Tsubasa Murase, Nao Chiba, Shun Shimada, Takanori Tsukahara, Hironori Minoura, Kyoko Takano
Rok vydání: 2021
Předmět:
Zdroj: American Journal of Medical Genetics Part A. 185:2175-2179
ISSN: 1552-4833
1552-4825
Popis: 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 segmental glomerulosclerosis. Here, we report a patient with rapidly progressing infantile nephrotic syndrome and a heterozygous missense TRPC6 variant. The patient, a 2-year-old Japanese boy, developed steroid-resistant nephrotic syndrome at age 11 months. His renal function deteriorated rapidly, and peritoneal dialysis was introduced at age 1 year and 6 months. His renal pathology, obtained at age 1 year and 1 month, was consistent with diffuse mesangial sclerosis (DMS). Clinical exome analysis and custom panel analysis for hereditary renal diseases revealed a reported heterozygous missense variant in TRPC6 (NM_004621.5:c.523C > T:p.Arg175Trp). This is the first report of a patient with a TRPC6-related renal disorder associated with DMS.
Databáze: OpenAIRE
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