Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

ABSTRACT:

Purpose

3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay, failure to thrive, hemiparesis, muscular hypotonia, and multiple sclerosis. Implementation of newborn screening for MCCD has resulted in broadening the range of phenotypic expression to include asymptomatic adults. The purpose of this study was to identify factors underlying the varying phenotypes of MCCD.

Methods

We performed exome sequencing on DNA from 33 cases and 108 healthy controls. We examined these data for associations between either MCC mutational status, genetic ancestry, or consanguinity and the absence or presen

SUBMITTER: Shepard PJ 

PROVIDER: S-EPMC4422778 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature