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Orphanet Journal of Rare Diseases

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Open Access 01-12-2018 | Research

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

Authors: Jingyan Li, Yunji Leng, Shirui Han, Lulu Yan, Chaoxia Lu, Yang Luo, Xue Zhang, Lihua Cao

Published in: Orphanet Journal of Rare Diseases | Issue 1/2018

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.

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Title: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract
Authors: Jingyan Li
Yunji Leng
Shirui Han
Lulu Yan
Chaoxia Lu
Yang Luo
Xue Zhang
Lihua Cao
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2018
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-018-0828-0

At a glance: The STEP trials

Springer Medicine

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

Abstract

Background

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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