Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.

ABSTRACT:

Background

Combined methylmalonic aciduria and homocystinuria, cobalamin(cbl)C deficiency, is a rare disorder of intracellular vitamin B12(cbl) metabolism caused by mutations in the MMACHC gene. Both genetic and biochemical approach have been established to diagnose children and fetuses with cblC deficiency, while in China there is no report of prenatal genetic diagnosis of cblC deficiency. The aim of the present study was to characterize the mutational spectrum of cblC deficiency and investigate the feasibility of genetic-sequencing-based prenatal diagnosis for cblC deficiency.

Methods

10 pedigrees were recruited in this study with the probands clinically and biochemically confirmed combined methymalonic aciduria and homocystinuria. Peripheral blood samples were collected f

SUBMITTER: Zong Y 

PROVIDER: S-EPMC4557897 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature