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

• DOI: 10.1186/s13023-018-0828-0
• Publication Date: 2018-06-18T08:04:23Z
• Authors: Jingyan Li; Yunji Leng; Shirui Han; Lulu Yan; Chaoxia Lu; Yang Luo; Xue Zhang; Lihua Cao
• Keywords: Sanger sequencing; Proband

Pediatric cataract is a clinically and genetically heterogeneous disease which significant cause of lifelong visual impairment treatable blindness. Our study aims to investigate the genotype spectrum in group Chinese patients with pediatric cataract. We enrolled 39 families from October 2015 April 2016. DNA samples probands were analyzed by target next-generation sequencing. Variants validated using Sanger sequencing available family members. In our cohort cases different types cataract, 23 found harbor putative pathogenic variants 15 genes: CRYAA, CRYBA1, CRYBA4, CRYBB1, CRYGC, CRYGD, MIP, GCNT2, IARS2, NHS, BCOR, BFSP2, FYCO1, MAF, PAX6. The mutation detection rates familial sporadic 75 47.8%, respectively. Of causative variants, over half novel. This rare report systematic screening analysis comparably large patients. observations enrich Next-generation provides diagnostic information for cases, especially when considering subtle syndromal cases.