title: [Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia].
abstract: OBJECTIVE
  To detect potential mutations of MAT1A gene in a child suspected with simple hypermethioninemia by MS/MS neonatal screening.
  
  
  METHODS
  Clinical data of the child was collected. Genomic DNA was extracted by a standard method and subjected to targeted sequencing using an Ion AmpliseqTMInherited Disease Panel. Detected mutations were verified by Sanger sequencing.
  
  
  RESULTS
  The child showed no clinical features except evaluated methionine. A novel compound mutation of the MAT1A gene, i.e., c.345delA and c.529C>T, was identified in the child. His father and mother were found to be heterozygous for the c.345delA mutation and c.529C>T mutation, respectively.
  
  
  CONCLUSIONS
  The compound mutation c.345delA and c.529C>T of the MAT1A gene probably underlie the disease in the child. The semi-conductor sequencing has provided an important means for the diagnosis of hereditary diseases.
authors.affiliation: Center of Genetic Medicine, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Jiangsu, Nanjing 210004, China. jiangzhang784@163.com.
authors.forename: Yun
authors.initials: Y
authors.lastname: Sun
authors.forename: Dingyuan
authors.initials: D
authors.lastname: Ma
authors.forename: Yanyun
authors.initials: Y
authors.lastname: Wang
authors.forename: Bin
authors.initials: B
authors.lastname: Yang
authors.forename: Tao
authors.initials: T
authors.lastname: Jiang
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005220:Fathers; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D050938:Glycine N-Methyltransferase / Q000172:deficiency* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D008716:Methionine Adenosyltransferase / Q000235:genetics*; D009035:Mothers; D009154:Mutation
chemical_list: D050938:Glycine N-Methyltransferase; C506577:MAT1A protein, human; D008716:Methionine Adenosyltransferase