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Article

A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature.

Ophthalmic genetics - 1 Jun 2022

Chiu Ning, Lee Winston, Liu Pei-Kang, Levi Sarah R, Wang Hung-Hsi, Chen Nelson, Kang Eugene Yu-Chuan, Seo Go Hun, Lee Hane, Liu Laura, Wu Wei-Chi, Tsai Shawn H, Wang Nan-Kai

Abstract excerpt

Ciliopathies are a group of genetic dystrophies causing syndromic and non-syndromic retinal degeneration. We identified CFAP410 as the causative gene in a patient with childhood-onset retinal dystrophy without other systemic symptoms at the age of 20. This 20-year-old man presented with cone-rod dystrophy and CFAP410 homozygous in-frame duplication variants (c.340_351dup). His clinical features included early...

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Identifiers

PMID: 34915818
DOI: 10.1080/13816810.2021.2010773
PMCID: PMC10234696

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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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