title: [Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency].
abstract: OBJECTIVE
  To investigate the mutations of SLC22A5 gene in patients with systemic primary carnitine deficiency (CDSP).
  
  
  METHODS
  High liquid chromatography tandem mass spectrometry (HPLC/MS/MS) was applied to screen congenital genetic metabolic disease and eight patients with CDSP were diagnosed among 77 511 samples. The SLC22A5 gene mutation was detected using massarray technology and sanger sequencing. Using SIFT and PolyPhen-2 to predict the function of protein for novel variations.
  
  
  RESULTS
  Total detection rate of gene mutation is 100% in the eight patients with CDSP. Seven patients had compound heterozygous mutations and one patient had homozygous mutations. Six different mutations were identified, including one nonsense mutation [c.760C>T(p.R254X)] and five missense mutations[c.51C>G(p.F17L), c.250T>A(p.Y84N), c.1195C>T(p.R399W), c.1196G>A(p.R399Q), c.1400C>G(p.S467C)]. The c.250T>A(p.Y84N) was a novel variation, the novel variation was predicted to have affected protein structure and function. The c.760C>T (p.R254X)was the most frequently seen mutation, which was followed by the c.1400C>G(p.S467C).
  
  
  CONCLUSIONS
  This study confirmed the diagnosis of eight patients with CDSP on the gene level. Six mutations were found in the SLC22A5 gene, including one novel mutation which expanded the mutational spectrum of the SLC22A5 gene.
authors.affiliation: Neonatal Disease Screening Center in Quanzhou, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian 362000, China. wrightlym@sina.com.
authors.forename: Yiming
authors.initials: Y
authors.lastname: Lin
authors.forename: Weihua
authors.initials: W
authors.lastname: Lin
authors.forename: Ke
authors.initials: K
authors.lastname: Yu
authors.forename: Faming
authors.initials: F
authors.lastname: Zheng
authors.forename: Zhenzhu
authors.initials: Z
authors.lastname: Zheng
authors.forename: Qingliu
authors.initials: Q
authors.lastname: Fu
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D002331:Carnitine / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D007231:Infant, Newborn; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D027701:Organic Cation Transport Proteins / Q000235:genetics* / Q000378:metabolism; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D017386:Sequence Homology, Amino Acid; D000074058:Solute Carrier Family 22 Member 5; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine