Mutational spectrum in a Chinese cohort with congenital cataracts.

ABSTRACT:

Background

To identify the mutational spectrum in a Chinese cohort with congenital cataracts.

Methods

Probands (n = 164) with congenital cataracts and their affected or unaffected available family members were recruited for clinical examinations and panel-based next-generation sequencing, then classified into a cohort for further mutational analysis.

Results

After recruitment (n = 442; 228 males and 214 females), 49.32% (218/442) of subjects received a clinical diagnosis of congenital cataracts, and 56.88% (124/218) of patients received a molecular diagnosis. Eighty-four distinct variants distributed among 43 different genes, including 42 previously reported variants and 42 novel variants, were detected, and 49 gene variants were causally associated with patient pheno

SUBMITTER: Liu HL 

PROVIDER: S-EPMC10496047 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature