Molecular basis of a combined malonic and methylmalonic aciduria solved by exome sequencing

Posted by & filed under Exome sequencing.

In the article below, Alfares et al. used exome sequencing to solve the molecular basis of combined malonic and methylmalonic aciduria. Two individuals with a benign course identified by the Quebec urine screening program did not have mutations in the gene encoding Malonyl-CoA decarboxylase. Exome sequencing revealed mutations in ACSF3, which encode a mitochondrial acyl-CoA synthase. The authors suggest that ACSF3 might have malonyl or methylmalony-CoA synthetase activity.

Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. J Med Genet. 2011 Sep;48(9):602-5

Posted by Philippe Campeau, MD

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