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

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.