Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
复制标题
外显子组测序将ACSF3鉴定为伴有丙二醛和甲基甲酸尿的原因。
DOI：
10.1038/ng.908
复制
发表时间：
2011-08-14
期刊：
影响因子：
30.8
通讯作者：
Venditti, Charles P.
中科院分区：
文献类型：
--
作者：
Sloan, Jennifer L.;Johnston, Jennifer J.;Manoli, Irini;Chandler, Randy J.;Krause, Caitlin;Carrillo-Carrasco, Nuria;Chandrasekaran, Suma D.;Sysol, Justin R.;O'Brien, Kevin;Hauser, Natalie S.;Sapp, Julie C.;Dorward, Heidi M.;Huizing, Marjan;Barshop, Bruce A.;Berry, Susan A.;James, Philip M.;Champaigne, Neena L.;de Lonlay, Pascale;Valayannopoulos, Vassilli;Geschwind, Michael D.;Gavrilov, Dimitar K.;Nyhan, William L.;Biesecker, Leslie G.;Venditti, Charles P.
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 inACSF3, 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 predictedACSF3ortholog.ACSF3mutant alleles occur with a minor allele frequency of 0.0058 in ∼1,000 control individuals, predicting a CMAMMA population incidence of ∼1:30,000.ACSF3deficiency 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.
登录
查看更多内容
影响因子：
6.5
作者：
Watkins, Paul A.;Maiguel, Dony;Pevsner, Jonathan
通讯作者：
Pevsner, Jonathan
影响因子：
3.6
作者：
Podell, M;Shelton, GD;Fenner, WR
通讯作者：
Fenner, WR
影响因子：
4.8
作者：
Zou, ZY;DiRusso, CC;Black, PN
通讯作者：
Black, PN
影响因子：
4.8
作者：
Black, PN;Zhang, Q;DiRusso, CC
通讯作者：
DiRusso, CC
影响因子：
7
作者：
Biesecker, Leslie G.;Mullikin, James C.;Green, Eric D.
通讯作者：
Green, Eric D.