Exome sequencing in metabolic genetics

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Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive inborn error of metabolism caused by malonyl-CoA decarboxylase (MCD) deficiency. Alfares et al. identified two probands with a non-classical CMAMMA variant through urine newborn screening. In these cases MMA excretion was higher than MA and the clinical courses were benign. MYLCD gene sequencing was normal and MCD activity was normal. Through exome sequencing in a single consanguineous proband, ACSF3 was identified as a candidate gene for non-classical CMAMMA. This study illustrates the value of exome sequencing of a limited number of patients for the identification of novel disease genes.  http://www.ncbi.nlm.nih.gov/pubmed/21785126. Alfares et al. J Med “Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.” Genet. 2011 Jul 23.  

Posted by Yannis Trakadis, MD MSc

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