title: [Mutation screening and prenatal diagnosis of methylmalonic academia in a Chinese pedigree by Ion Torrent semiconductor sequencing].
abstract: OBJECTIVE
  To identify pathogenic mutations in a Chinese pedigree affected with methylmalonic academia for genetic counseling and prenatal diagnosis.
  
  
  METHODS
  Molecular analysis of the MUT, MMACHC, MMAA and MMAB genes was performed for the proband with methylmalonic academia by Ion Torrent semiconductor sequencing. Candidate mutations were validated by Sanger sequencing. The couple was offered prenatal diagnosis via analyzing of the fetal DNA through amniocentesis.
  
  
  RESULTS
  The proband was found to be compound heterozygous for c.609G>A (p.Trp203X) and c.658-660del AAG (p.Lys220del) mutations, which were inherited respectively from each of his parents. Prenatal diagnosis showed that the fetus has inherited two wild-type parental alleles.
  
  
  CONCLUSIONS
  The targeted Ion Torrent PGM sequencing has detected pathogenic mutations in the Chinese pedigree affected with methylmalonic academia, which has provided molecular evidence for clinical diagnosis, genetic counseling and prenatal diagnosis for the family.
authors.affiliation: Center of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210004, China. njxzf@126.com.
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.forename: Dingyuan
authors.initials: D
authors.lastname: Ma
authors.forename: Yun
authors.initials: Y
authors.lastname: Sun
authors.forename: Jingjing
authors.initials: J
authors.lastname: Zhang
authors.forename: Yuguo
authors.initials: Y
authors.lastname: Wang
authors.forename: Tao
authors.initials: T
authors.lastname: Jiang
authors.forename: Zhengfeng
authors.initials: Z
authors.lastname: Xu
mesh_terms: D000328:Adult; D019883:Alkyl and Aryl Transferases / Q000235:genetics; D000592:Amino Acid Metabolism, Inborn Errors / Q000196:embryology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics; D002681:China; D005260:Female; D059014:High-Throughput Nucleotide Sequencing / Q000295:instrumentation / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D010088:Oxidoreductases; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000295:instrumentation / Q000379:methods*
chemical_list: D002352:Carrier Proteins; C497512:MMAA protein, human; D033681:Mitochondrial Membrane Transport Proteins; C508359:MMACHC protein, human; D010088:Oxidoreductases; D019883:Alkyl and Aryl Transferases; C019920:cob(I)alamin adenosyltransferase; D008765:Methylmalonyl-CoA Mutase