A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature. (4th May 2022)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Ophthalmic genetics. Volume 43:Number 3(2022)
• Page Start: 378
• Page End: 384
• Publication Date: 2022-05-04
• Subjects: Ciliopathy -- CFAP410 -- C21orf2 -- retinal dystrophy -- cone-rod dystrophy -- short stature -- whole exome sequencing; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2021.2010773
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: 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 subnormal vision, posterior pole staphyloma, and short stature. Unlike the previously reported features of retinal ciliopathy, our patient showed no obvious retinal pigmentation and only a slight hyper-autofluorescent parafoveal ring at the 16-year follow up. This case report aims to characterize the clinical features in a patient with novel, homozygous and likely pathogenic in-frame duplication variants in the CFAP410 gene. Ultimately, this report will help contribute to the understanding of CFAP410 -associated ciliopathies.