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Article

A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis.

CEN case reports - 1 Feb 2022

Awazu Midori, Yamada Mamiko, Asada Nariaki, Hashiguchi Akinori, Kosaki Kenjiro, Matsumura Kazuya

Abstract excerpt

Mutations in the ciliary gene TTC21B, NPHP4, and CRB2 cause familial focal and segmental glomerulosclerosis (FSGS). We report a girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis. The patient had mental retardation, postaxial polydactyly, and ataxic breathing, and was diagnosed as having compound heterozygous CC2D2A missense mutations at age 5. Retrospectively, azotemia at...

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Identifiers

PMID: 34435324
DOI: 10.1007/s13730-021-00640-8
PMCID: PMC8811092

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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