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

doi:10.1080/13816810.2021.2010773

中山醫學大學機構典藏 CSMUIR > 中山醫學大學研究成果 > 期刊論文 > Item 310902500/23461

Please use this identifier to cite or link to this item: https://ir.csmu.edu.tw:8080/ir/handle/310902500/23461

Title:	A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature
Authors:	Chiu, N;Lee, W;Liu, PK;Levi, SR;Wang, HH;Chen, N;Kang, EYC;Seo, GH;Lee, H;Liu, L;Wu, WC;Tsai, SH;Wang, NK
Keywords:	Ciliopathy;CFAP410;C21orf2;retinal dystrophy;cone-rod dystrophy;short stature;whole exome sequencing
Date:	2021
Issue Date:	2022-08-05T09:37:39Z (UTC)
Publisher:	TAYLOR & FRANCIS INC
ISSN:	1381-6810
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.
URI:	http://dx.doi.org/10.1080/13816810.2021.2010773 https://www.webofscience.com/wos/woscc/full-record/WOS:000731220800001 https://ir.csmu.edu.tw:8080/handle/310902500/23461
Relation:	OPHTHALMIC GENETICS ,2022,v43,issue 3, P378-384
Appears in Collections:	[中山醫學大學研究成果] 期刊論文

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