A novel GJA8 mutation causing a recessive triangular cataract.

ABSTRACT:

Purpose

The aim of the study was to characterize the underlying mutation in a consanguineous family having cataracts.

Methods

Family D having congenital cataracts was treated at the University Eye Clinics at Giessen (Germany). Lens material from surgeries was collected, immediately frozen at -80 degrees C, and used for cDNA production. Blood was taken from the proband and available family members. Polymerase chain reaction (PCR)-amplified DNA fragments were characterized by sequencing and restriction digestion.

Results

The proband, AD, has a dense, triangular nuclear cataract. The parents are consanguineous, and the mother and grandmother suffer from a discrete, symmetric opacity of the fetal lens nucleus. The proband's lens cDNA showed a homozygous insertion of one G

SUBMITTER: Schmidt W 

PROVIDER: S-EPMC2375854 | biostudies-literature | 2008 May

REPOSITORIES: biostudies-literature