A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts.

ABSTRACT:

Aim

To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified mutation.

Methods

Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by polymerase chain reaction (PCR) of the two reported genes (CRYAA and GJA8) which were linked to human total cataracts and direct sequencing of the PCR product. The molecular consequences of the identified mutation was dissected. The plasmids carrying wild-type and mutant mouse ORF of Gja8, coding for connexin 50 (Cx50), were generated and ectopic expressed in 293 cells. Recombinant protein expression and

SUBMITTER: Dang FT 

PROVIDER: S-EPMC5145082 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature