title: Clinical features and HLXB9 gene mutation of a sporadic Chinese Currarino's syndrome case.
abstract: OBJECTIVE
  The Currarino's syndrome (CS), which is characterized by sacral bony anomalies, anorectal malformation, and a presacral mass, is associated with mutations of HLXB9 gene. The aim of this study was to clearly define the clinical manifestations and molecular anomalies of CS in China.
  
  
  METHODS
  We studied the medical history and clinical manifestations of a child with presacral mass. Genomic DNA was extracted from lymphocytes, and mutation analysis of the HLXB9 gene was conducted by using polymerase chain reaction and direct sequencing in the child and her parents.
  
  
  RESULTS
  A previously unreported heterozygous missense mutation of HLXB9 gene was detected in the child.
  
  
  CONCLUSIONS
  The HLXB9 gene mutation could take place in sporadic cases of CS without a typical hemisacrum.
authors.affiliation: Department of Pediatric Surgery, Xin Hua Hospital Affiliated to School of Medicine, Shanghai Jiaotong University, Shanghai 200092, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Liang
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.forename: Wei
authors.initials: W
authors.lastname: Cai
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D019943:Amino Acid Substitution; D001003:Anal Canal / Q000002:abnormalities*; D001665:Binding Sites; D003050:Coccyx / Q000002:abnormalities*; D003248:Constipation / Q000209:etiology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006579:Heterozygote; D006627:Hirschsprung Disease / Q000175:diagnosis; D018398:Homeodomain Proteins / Q000235:genetics* / Q000502:physiology; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017434:Protein Structure, Tertiary; D012447:Sacrum / Q000002:abnormalities*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics* / Q000502:physiology
chemical_list: D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors