Clinical features and HLXB9 gene mutation of a sporadic Chinese Currarino's syndrome case.
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.
Liang
Ying
Y
Department of Pediatric Surgery, Xin Hua Hospital Affiliated to School of Medicine, Shanghai Jiaotong University, Shanghai 200092, China.
Wang
Jun
J
Cai
Wei
W
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
D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors