title: [Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients].
abstract: OBJECTIVE
  To detect potential mutations of Y9ASS1, ASL and SLC25A13 genes in four patients manifesting citrullinemia.
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood leukocytes. Exons and their flanking sequences of the three genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.
  
  
  RESULTS
  Based on DNA sequence analysis, one case was diagnosed with argininosuccinate synthetase deficiency, and the mutation type (ASS1 gene) was c.236C>T (p.S79F) + c.431C>G (p.P144R). Two cases were diagnosed with argininosuccinic aciduria (ASL gene), and their gene mutations were c.434A>G (p.D145G) + c.1366C>T (p.R456W) and c.331C>T (p.R111W) + IVS8+2insT, respectively. A thirteen months boy who carried a heterozygous 851del4 mutation (SLC25A13 gene) was diagnosed with citrullinemia adult-onset type II.
  
  
  CONCLUSIONS
  Through analysis of relevant pathogenic genes, four patients have been diagnosed.
authors.affiliation: Shenzhen Institute of Pediatrics, Department of Neonatology, Department of Neurology, Department of Traditional Chinese Medicine, Shenzhen Children's Hospital, Shenzhen, Guangdong 518026, P.R. China. Email: rogasan@163.com.
authors.forename: Pengqiang
authors.initials: P
authors.lastname: Wen
authors.forename: Zhanling
authors.initials: Z
authors.lastname: Chen
authors.forename: Guobing
authors.initials: G
authors.lastname: Wang
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Liu
authors.forename: Li
authors.initials: L
authors.lastname: Chen
authors.forename: Shuli
authors.initials: S
authors.lastname: Chen
authors.forename: Lisheng
authors.initials: L
authors.lastname: Wan
authors.forename: Dong
authors.initials: D
authors.lastname: Cui
authors.forename: Yue
authors.initials: Y
authors.lastname: Shang
authors.forename: Chengrong
authors.initials: C
authors.lastname: Li
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001123:Argininosuccinate Lyase / Q000235:genetics* / Q000378:metabolism; D001124:Argininosuccinate Synthase / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D020159:Citrullinemia / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation
chemical_list: D033681:Mitochondrial Membrane Transport Proteins; C119629:SLC25A13 protein, human; D001123:Argininosuccinate Lyase; D001124:Argininosuccinate Synthase