The genetic landscape of crystallins in congenital cataract.

ABSTRACT:

Background

The crystalline lens is mainly composed of a large family of soluble proteins called the crystallins, which are responsible for its development, growth, transparency and refractive index. Disease-causing sequence variants in the crystallins are responsible for nearly 50% of all non-syndromic inherited congenital cataracts, as well as causing cataract associated with other diseases, including myopathies. To date, more than 300 crystallin sequence variants causing cataract have been identified.

Methods

Here we aimed to identify the genetic basis of disease in five multi-generation British families and five sporadic cases with autosomal dominant congenital cataract using whole exome sequencing, with identified variants validated using Sanger sequencing. Following bio

SUBMITTER: Berry V 

PROVIDER: S-EPMC7691105 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature