A novel mutation of LIM2 causes autosomal dominant membranous cataract in a Chinese family.

ABSTRACT:

Aim

To identify mutations in the genes of a four-generation Chinese family with congenital membranous cataracts and investigate the morphologic changes and possible functional damage underlying the role of the mutant gene.

Methods

Whole exome analysis of thirteen members of a four-generation pedigree affected with congenital membranous cataracts was performed; co-segregation analysis of identified variants was validated by Sanger sequencing. All members underwent detailed physical and complete eye examinations. The physical changes caused by the mutation were analyzed in silico through homology modeling. The lens fiber block from a patient was observed under a scanning electron microscope (SEM). Cell membrane proteins and cytoplasmic proteins from the human lenses donated by

SUBMITTER: Pei R 

PROVIDER: S-EPMC7511386 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature