title: [Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria].
abstract: OBJECTIVE
  To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.
  
  
  METHODS
  Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.
  
  
  RESULTS
  DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes.
  
  
  CONCLUSIONS
  Mutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.
authors.affiliation: Department of Clinical Laboratory, Peking University Shenzhen Hospital, Shenzhen, Guangdong 518036, China. wenpq@outlook.com.
authors.forename: Yukui
authors.initials: Y
authors.lastname: Deng
authors.forename: Gen
authors.initials: G
authors.lastname: Tang
authors.forename: Pengqiang
authors.initials: P
authors.lastname: Wen
authors.forename: Guobing
authors.initials: G
authors.lastname: Wang
authors.forename: Cailei
authors.initials: C
authors.lastname: Zhao
authors.forename: Zhanling
authors.initials: Z
authors.lastname: Chen
authors.forename: Xiuwei
authors.initials: X
authors.lastname: Zhang
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Liu
authors.forename: Dong
authors.initials: D
authors.lastname: Cui
authors.forename: Chengrong
authors.initials: C
authors.lastname: Li
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000000981:diagnostic imaging; D020739:Brain Diseases, Metabolic, Inborn / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011859:Radiography; D055815:Young Adult
chemical_list: D000429:Alcohol Oxidoreductases; C506763:L2HGDH protein, human