title: [Genetics and pedigree analysis of primary carnitine deficiency cardiomyopathy in 6 cases].
abstract: OBJECTIVE
  To investigate the mutation and background of SLC22A5 in 6 patients with primary carnitine deficiency (PCD) who only presented as cardiomyopathy.
  
  
  METHODS
  Genomic DNA were abstracted from the blood of the patients and their parents. Using high-throughput sequencing to determine the mutation site.Using Sanger method to confirm the mutated alleles in PCD patients and detect the corresponding sequences in their patients. Using SIFT and PolyPhen to predict the function of protein for detected missense mutations.
  
  
  RESULTS
  Three different mutations were identified, including 2 nonsense mutations (R254X and R289X), 1 missense mutation (C113Y), R254X was the most frequently seen mutation. Four patients had compound heterozygous mutations and 2 patients had homozygous mutations. Their parents were found to have heterozygous mutations in corresponding alleles.
  
  
  CONCLUSIONS
  R254X, R289X and C113Y might be associated with primary carnitine deficiency.
authors.affiliation: Department of Pediatrics, Guangdong General Hospital (Guangdong Academy of Medical Sciences), Guangdong Cardiovascular Institute, Guangzhou 510080, China.
authors.forename: Jiao
authors.initials: J
authors.lastname: Rao
authors.affiliation: Department of Pediatrics, Guangdong General Hospital (Guangdong Academy of Medical Sciences), Guangdong Cardiovascular Institute, Guangzhou 510080, China.
authors.forename: Guohong
authors.initials: G
authors.lastname: Zeng
authors.affiliation: Department of Pediatrics, Guangdong General Hospital (Guangdong Academy of Medical Sciences), Guangdong Cardiovascular Institute, Guangzhou 510080, China.
authors.forename: Shushui
authors.initials: S
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Guangdong General Hospital (Guangdong Academy of Medical Sciences), Guangdong Cardiovascular Institute, Guangzhou 510080, China.
authors.forename: Zhiwei
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: Department of Pediatrics, Guangdong General Hospital (Guangdong Academy of Medical Sciences), Guangdong Cardiovascular Institute, Guangzhou 510080, China. Email:liyufen-2005@tom.com.
authors.forename: Yufen
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Pediatrics, Guangdong General Hospital (Guangdong Academy of Medical Sciences), Guangdong Cardiovascular Institute, Guangzhou 510080, China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics*; D002331:Carnitine / Q000172:deficiency* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D022124:Hyperammonemia / Q000235:genetics*; D007223:Infant; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D010375:Pedigree; D000074058:Solute Carrier Family 22 Member 5
chemical_list: D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine