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

Jingyan Li†,
Yunji Leng†,
Shirui Han†,
Lulu Yan,
Chaoxia Lu,
Yang Luo,
Xue Zhang†Email author and
Lihua Cao†Email author View ORCID ID profile

†Contributed equally

Orphanet Journal of Rare Diseases201813:94

https://doi.org/10.1186/s13023-018-0828-0

Received: 8 February 2018

Accepted: 18 May 2018

Published: 18 June 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.