title: [Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency].
abstract: OBJECTIVE
  To detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency.
  
  
  METHODS
  Genomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing.
  
  
  RESULTS
  The proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. The same mutations were not found among the 100 healthy controls.
  
  
  CONCLUSIONS
  The novel mutations of the ALDH5A1 gene probably underlie the pathogenesis of the disease in the infant, which also enriched the mutation spectrum of the ALDH5A1 gene.
authors.affiliation: Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin 300134, China. zhangyuqin0809@sina.com.
authors.forename: Jianbo
authors.initials: J
authors.lastname: Shu
authors.forename: Fengying
authors.initials: F
authors.lastname: Cai
authors.forename: Wenxuan
authors.initials: W
authors.lastname: Fan
authors.forename: Yingtao
authors.initials: Y
authors.lastname: Meng
authors.forename: Chunhua
authors.initials: C
authors.lastname: Zhang
authors.forename: Chunquan
authors.initials: C
authors.lastname: Cai
authors.forename: Yuqin
authors.initials: Y
authors.lastname: Zhang
authors.forename: Shuxiang
authors.initials: S
authors.lastname: Lin
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000208:ethnology / Q000235:genetics*; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods; D002658:Developmental Disabilities / Q000208:ethnology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation; D017386:Sequence Homology, Amino Acid; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency* / Q000235:genetics
chemical_list: C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase