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Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies.

作者信息

Shin Dong Hoon, Kim Ah Reum, Woo Hye In, Jang Ja-Hyun, Park Woong-Yang, Kim Byoung Joon, Kim Sang Jin

机构信息

Hangil Eye Hospital Retina Center, Incheon, Korea.

Samsung Genome Institute, Seoul, Korea.

出版信息

Korean J Ophthalmol. 2020 Dec;34(6):500-502. doi: 10.3341/kjo.2020.0087. Epub 2020 Dec 3.

DOI:10.3341/kjo.2020.0087
PMID:33307614
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7738230/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/926f/7738230/b905bc14ea62/kjo-2020-0087f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/926f/7738230/b905bc14ea62/kjo-2020-0087f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/926f/7738230/b905bc14ea62/kjo-2020-0087f1.jpg

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引用本文的文献

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Variants in CFAP410 cause a range of retinal and skeletal phenotypes.CFAP410基因的变异会导致一系列视网膜和骨骼表型。
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Ophthalmic Genet. 2024 Dec;45(6):633-639. doi: 10.1080/13816810.2024.2369271. Epub 2024 Sep 4.
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Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy.

本文引用的文献

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Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.日本视网膜色素变性和视锥视杆营养不良患者中C21orf2基因LRR帽结构域新突变的鉴定
Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4255-63. doi: 10.1167/iovs.16-19450.
2
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.轴性脊椎干骺端发育不良由C21orf2基因突变引起。
PLoS One. 2016 Mar 14;11(3):e0150555. doi: 10.1371/journal.pone.0150555. eCollection 2016.
3
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
双层高荧光环：CFAP410 相关性视网膜病变的特征。
Invest Ophthalmol Vis Sci. 2023 Dec 1;64(15):44. doi: 10.1167/iovs.64.15.44.
4
Distinct Features of Plasma Ultrashort Single-Stranded Cell-Free DNA as Biomarkers for Lung Cancer Detection.血浆超短单链无细胞游离 DNA 的特征可作为肺癌检测的生物标志物。
Clin Chem. 2023 Nov 2;69(11):1270-1282. doi: 10.1093/clinchem/hvad131.
5
C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases.导致遗传性视网膜疾病的C21orf2变异：我们所了解的情况综述及两例新疑似病例报告
Clin Case Rep. 2023 Mar 19;11(3):e7110. doi: 10.1002/ccr3.7110. eCollection 2023 Mar.
6
A homozygous in-frame duplication within the LRRCT consensus sequence of causes cone-rod dystrophy, macular staphyloma and short stature.[基因名称]的富含亮氨酸重复序列和C-末端（LRRCT）共有序列内的纯合框内重复导致锥杆营养不良、黄斑葡萄肿和身材矮小。
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