Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family.

ABSTRACT:

Background

Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterized by progressive corneal opacity that starts in early childhood and ultimately progresses to blindness in early adulthood. The aim of this study was to identify the cause of MCD in a black South African family with two affected sisters.

Methods

A multigenerational South African Sotho-speaking family with type I MCD was studied using whole exome sequencing. Variant filtering to identify the MCD-causal mutation included the disease inheritance pattern, variant minor allele frequency and potential functional impact.

Results

Ophthalmologic evaluation of the cases revealed a typical MCD phenotype and none of the other family members were affected. An average of 127 713 var

SUBMITTER: Carstens N 

PROVIDER: S-EPMC4955246 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature