Posts Categorized: Exome sequencing



Glycerol-3-Phosphate Dehydrogenase deficiency

Posted by & filed under Exome sequencing, New IEM.

Basel-Vanagaite L. et al. Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1. Am J Hum Genet. 2012 Jan 4 In several individuals with childhood hypertriglyceridemia followed by liver fibrosis, this group identified mutations in GDP1, encoding Glycerol-3-Phosphate Dehydrogenase 1. The enzyme GPD1 reversibly converts glycerol-3-phosphate (G3P) in […]



Adenosine Kinase Deficiency

Posted by & filed under Exome sequencing, New IEM.

Two siblings with developmental delay, liver dysfunction and hypermethioninemia were investigated by exome sequencing. A homozygous missense mutation was identified in adenosine kinase, which could explain the block in the methionine cycle. Additional families were identified, and the mutations affected enzymatic function. The mouse deficient in adenosine kinase, described previously, displays phenotypic similarities, and to […]



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 […]