Novel mutations in HSF4 cause congenital cataracts in Chinese families.

ABSTRACT:

Background

Congenital cataract, a kind of cataract presenting at birth or during early childhood, is a leading cause of childhood blindness. To date, more than 30 genes on different chromosomes are known to cause this disorder. This study aimed to identify the HSF4 mutations in a cohort from Chinese families affected with congenital cataracts.

Methods

Forty-two unrelated non-syndromic congenital cataract families and 112 ethnically matched controls from southeast China were recruited from the southeast of China. We employed Sanger sequencing method to discover the variants. To confirm the novel mutations, STR haplotypes were constructed to check the co-segregation with congenital cataract. The pathogenic potential of the novel mutations were assessed using bioinformatics too

SUBMITTER: Cao Z 

PROVIDER: S-EPMC6109319 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature