title: [Genetic and prenatal diagnosis for a Chinese family with primary carnitine deficiency].
abstract: OBJECTIVE
  To identify potential mutation of SLC22A5 gene in a 5-month-old boy affected with primary carnitine deficiency and provide genetic counseling and prenatal diagnosis for the members of his family.
  
  
  METHODS
  DNA was extracted from peripheral blood samples derived from the proband, his parents and elder sister, as well as amniotic fluid from his pregnant mother. All of the 10 exons of the SLC22A5 gene were amplified by PCR and subjected to Sanger sequencing. The amniotic fluid sample was also subjected to G-banded karyotyping and multiplex ligation-dependent probe amplification (MLPA).
  
  
  RESULTS
  A homozygous mutation c.760C>T (p.R254X) of the SLC22A5 gene was detected in the proband. Heterozygous mutation c.760C>T (p.R254X) was also found in other family members including the fetus. The karyotyping and chromosomal microdeletion testing for the amniotic fluid sample were both normal.
  
  
  CONCLUSIONS
  The newly identified homozygous nonsense c.760C>T (p.R254X) mutation of the SLC22A5 gene probably underlies the primary carnitine deficiency of the proband. Genetic counseling and prenatal diagnosis have been provided for this family.
authors.affiliation: Grade 2012 Master Program for Obstetrics and Gynecology, Guangdong Medical University, Guangzhou, Guangdong 518028, P.R. China. jianshengxie2000@aliyun.com.
authors.forename: Yanhua
authors.initials: Y
authors.lastname: Su
authors.forename: Yang
authors.initials: Y
authors.lastname: Liu
authors.forename: Jiansheng
authors.initials: J
authors.lastname: Xie
authors.forename: Zhiyong
authors.initials: Z
authors.lastname: Xu
authors.forename: Weiqing
authors.initials: W
authors.lastname: Wu
authors.forename: Qian
authors.initials: Q
authors.lastname: Geng
authors.forename: Fuwei
authors.initials: F
authors.lastname: Luo
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D009202:Cardiomyopathies / Q000196:embryology / Q000235:genetics*; D002331:Carnitine / Q000172:deficiency* / Q000235:genetics; D002681:China; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D022124:Hyperammonemia / Q000196:embryology / Q000235:genetics*; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000196:embryology / Q000235:genetics*; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; 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