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Article

FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child.

CEN case reports - 1 Feb 2021

Rossanti Rini, Watanabe Toshio, Nagano China, Hara Shigeo, Horinouchi Tomoko, Yamamura Tomohiko, Sakakibara Nana, Ninchoji Takeshi, Iijima Kazumoto, Nozu Kandai

Abstract excerpt

The identification of monogenic causes in patients with proteinuria has revealed that the encoded proteins functionally participate in distinct cellular tasks and signaling pathways in the slit diaphragms of the glomerular basement membrane. FAT1 is a member of a small family of vertebrate-cadherin-like genes, which is a crucial component in slit diaphragms and has a vital role in tubular regeneration. Only 5...

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Identifiers

PMID: 32902815
DOI: 10.1007/s13730-020-00529-y
PMCID: PMC7829294

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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