Clinical features and HLXB9 gene mutation of a sporadic Chinese Currarino's syndrome case

J Pediatr Surg. 2007 Jun;42(6):E27-30. doi: 10.1016/j.jpedsurg.2007.03.062.

Abstract

Background/purpose: 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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Amino Acid Substitution*
  • Anal Canal / abnormalities*
  • Binding Sites
  • Coccyx / abnormalities*
  • Constipation / etiology
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Heterozygote
  • Hirschsprung Disease / diagnosis
  • Homeodomain Proteins / genetics*
  • Homeodomain Proteins / physiology
  • Humans
  • Infant
  • Mutation, Missense*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Protein Structure, Tertiary
  • Sacrum / abnormalities*
  • Syndrome
  • Transcription Factors / genetics*
  • Transcription Factors / physiology

Substances

  • Homeodomain Proteins
  • MNX1 protein, human
  • Transcription Factors