Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

ABSTRACT:

Purpose

Leber congenital amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset. Mutations in the Crumbs homologue 1 (CRB1; OMIM 600105) gene explain 10%-24% of cases with LCA depending on the population. The aim of the present work was to study a fetal mutation associated to LCA in maternal plasma by a new methodology in the noninvasive prenatal diagnosis field: the denaturing High Performance Liquid Chromatography (dHPLC).

Methods

This study presents the case of a compound heterozygous fetus for two mutations in CRB1 (1q3.1-q32.2). dHPLC and automated DNA sequencing were used to detect the paternally inherited fetal mutation in a maternal plasma sample collected at the 12th week of gestation. To test the detection limit of dH

SUBMITTER: Bustamante-Aragones A 

PROVIDER: S-EPMC2493031 | biostudies-literature | 2008 Aug

REPOSITORIES: biostudies-literature