A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family.

ABSTRACT:

Aim

To investigate the genetic mutations that are associated the hereditary autosomal dominant cataract in a Chinese family.

Methods

A Chinese family consisting of 20 cataract patients (including 9 male and 11 female) and 2 unaffected individuals from 5 generations were diagnosed to be a typical autosomal dominant cataract pedigree. Genomic DNA samples were extracted from the peripheral blood cells of the participants in this pedigree. Exon sequence was used for genetic mutation screening. In silico analysis was used to study the structure characteristics of connexin 46 (CX46) mutant. Immunoblotting was conduceted for testing the expression of CX46.

Results

To determine the involved genetic mutations, 11 well-known cataract-associated genes (cryaa, cryab, crybb1, cryb

SUBMITTER: Cui XK 

PROVIDER: S-EPMC5437452 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature