North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

ABSTRACT:

Purpose

To identify specific mutations causing North Carolina macular dystrophy (NCMD).

Design

Whole-genome sequencing coupled with reverse transcription polymerase chain reaction (RT-PCR) analysis of gene expression in human retinal cells.

Participants

A total of 141 members of 12 families with NCMD and 261 unrelated control individuals.

Methods

Genome sequencing was performed on 8 affected individuals from 3 families affected with chromosome 6-linked NCMD (MCDR1) and 2 individuals affected with chromosome 5-linked NCMD (MCDR3). Variants observed in the MCDR1 locus with frequencies <1% in published databases were confirmed using Sanger sequencing. Confirmed variants absent from all published databases were sought in 8 additional MCDR1 families and 261 controls

SUBMITTER: Small KW 

PROVIDER: S-EPMC4695238 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature