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• W2107081864 abstract "Leslie Biesecker and colleagues report exome sequencing of an individual with combined malonic and methylmalonic aciduria (CMAMMA). With follow-up sequencing of an additional eight cases, they confirm ACSF3 as a cause of CMAMMA. They further report a canine model for CMAMMA that has a mutation in a putative ACSF3 ortholog. We used exome sequencing to identify the genetic basis of combined malonic and methylmalonic aciduria (CMAMMA). We sequenced the exome of an individual with CMAMMA and followed up with sequencing of eight additional affected individuals (cases). This included one individual who was identified and diagnosed by searching an exome database. We identify mutations in ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase as a cause of CMAMMA. We also examined a canine model of CMAMMA, which showed pathogenic mutations in a predicted ACSF3 ortholog. ACSF3 mutant alleles occur with a minor allele frequency of 0.0058 in ∼1,000 control individuals, predicting a CMAMMA population incidence of ∼1:30,000. ACSF3 deficiency is the first human disorder identified as caused by mutations in a gene encoding a member of the acyl-CoA synthetase family, a diverse group of evolutionarily conserved proteins, and may emerge as one of the more common human metabolic disorders." @default.
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• W2107081864 date "2011-08-14" @default.
• W2107081864 modified "2023-10-05" @default.
• W2107081864 title "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria" @default.
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• W2107081864 doi "https://doi.org/10.1038/ng.908" @default.
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