A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.

ABSTRACT:

Objective

To investigate a novel insertion variant of CRYGD identified in a Chinese family with nuclear congenital cataract.

Methods

A Chinese family with congenital nuclear cataract was recruited for the mutational screening of candidate genes by direct sequencing. Recombinant N-terminal Myc tagged wildtype or mutant CRYGD was expressed in HEK293T cells. The expression pattern, protein solubility and subcellular distribution were analyzed by western blotting and immunofluorescence.

Principal findings

A novel insertion variant, c.451_452insGACT, in CRYGD was identified in the patients. It causes a frameshift and a premature termination of the polypeptide to become Y151*. A significantly reduced solubility was observed for this mutant. Unlike wildtype CRYGD, which exis

SUBMITTER: Zhuang X 

PROVIDER: S-EPMC4493073 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature