NDLI: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract

Content Provider	Springer Nature : BioMed Central
Author	Li, Jingyan Leng, Yunji Han, Shirui Yan, Lulu Lu, Chaoxia Luo, Yang Zhang, Xue Cao, Lihua
Abstract	Background Pediatric cataract is a clinically and genetically heterogeneous disease which is a significant cause of lifelong visual impairment and treatable blindness. Our study aims to investigate the genotype spectrum in a group of Chinese patients with pediatric cataract. Methods We enrolled 39 families with pediatric cataract from October 2015 to April 2016. DNA samples of the probands were analyzed by target next-generation sequencing. Variants were validated using Sanger sequencing in the probands and available family members. Results In our cohort of 39 cases with different types of pediatric cataract, 23 cases were found to harbor putative pathogenic variants in 15 genes: CRYAA, CRYBA1, CRYBA4, CRYBB1, CRYGC, CRYGD, MIP, GCNT2, IARS2, NHS, BCOR, BFSP2, FYCO1, MAF, and PAX6. The mutation detection rates in the familial and sporadic cases were 75 and 47.8%, respectively. Of the 23 causative variants, over half were novel. Conclusions This is a rare report of systematic mutation screening analysis of pediatric cataract in a comparably large cohort of Chinese patients. Our observations enrich the mutation spectrum of pediatric cataract. Next-generation sequencing provides significant diagnostic information for pediatric cataract cases, especially when considering sporadic and subtle syndromal cases.
Related Links	https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-018-0828-0.pdf
Ending Page	12
Page Count	12
Starting Page	1
File Format	HTM / HTML
ISSN	17501172
DOI	10.1186/s13023-018-0828-0
Journal	Orphanet Journal of Rare Diseases
Issue Number	1
Volume Number	13
Language	English
Publisher	BioMed Central
Publisher Date	2018-06-18
Access Restriction	Open
Subject Keyword	Medicine Public Health Pharmacology Toxicology Human Genetics Pediatric cataract Next-generation sequencing Variant Nystagmus Medicine/Public Health Pharmacology/Toxicology
Content Type	Text
Resource Type	Article
Subject	Pharmacology (medical) Genetics (clinical)
Journal Impact Factor	3.4/2023
5-Year Journal Impact Factor	3.9/2023

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