Ontology highlight
ABSTRACT:
SUBMITTER: Sloan JL
PROVIDER: S-EPMC3163731 | biostudies-literature | 2011 Aug
REPOSITORIES: biostudies-literature
Sloan Jennifer L JL Johnston Jennifer J JJ Manoli Irini I Chandler Randy J RJ Krause Caitlin C Carrillo-Carrasco Nuria N Chandrasekaran Suma D SD Sysol Justin R JR O'Brien Kevin K Hauser Natalie S NS Sapp Julie C JC Dorward Heidi M HM Huizing Marjan M Barshop Bruce A BA Berry Susan A SA James Philip M PM Champaigne Neena L NL de Lonlay Pascale P Valayannopoulos Vassilli V Geschwind Michael D MD Gavrilov Dimitar K DK Nyhan William L WL Biesecker Leslie G LG Venditti Charles P CP
Nature genetics 20110814 9
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 ...[more]