title: [ASS1 gene mutation in a neonate with citrullinemia type I].
abstract: OBJECTIVE
  To identify the genetic mutation in ASS1 gene in a Chinese family with citrullinemia typeI, which may provide a basis for the diagnosis and genetic counseling.
  
  
  METHODS
  Genomic DNA was isolated from peripheral blood samples of the family members. Mutation analysis of ASS1 gene was carried out by PCR and Sanger sequencing. Biostructural analysis of the mutated ASS1 was completed by Phyre server.
  
  
  RESULTS
  Double heterozygous mutations in the proband were identified: c.951delT (F317LfsX375) and c.1087C>T (R363W), which were confirmed in the proband's father and mother, respectively. It was found that the c.951delT mutation might change the formation of a dimer or a tetramer and the function of ASS1 protein.
  
  
  CONCLUSIONS
  Double heterozygous mutations for c.951delT and c.1087C>T have been found in a proband with citrullinemia typeI. The c.951delT is a novel mutation in citrullinemia typeI, which may change the configuration of ASS1 protein and result in ASS1 dysfunction.
authors.affiliation: Department of Genetic Metabolism, Children's Hospital,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.
authors.forename: Bobo
authors.initials: B
authors.lastname: Xie
authors.affiliation: Department of Genetic Metabolism, Children's Hospital,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.
authors.forename: Rongyu
authors.initials: R
authors.lastname: Chen
authors.affiliation: Department of Genetic Metabolism, Children's Hospital,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Genetic Metabolism, Children's Hospital,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.
authors.forename: Jingsi
authors.initials: J
authors.lastname: Luo
authors.affiliation: Department of Genetic Metabolism, Children's Hospital,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.
authors.forename: Wang
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Genetic Metabolism, Children's Hospital,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China? Email: chenshaoke123@163.com.
authors.forename: Shaoke
authors.initials: S
authors.lastname: Chen
mesh_terms: D001124:Argininosuccinate Synthase / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D020159:Citrullinemia / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation
chemical_list: D001124:Argininosuccinate Synthase