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

Background/Purpose: The Carrarino's syndrome (CS), which is characterized by sacral bony anomalies, anorectal malformation, and a presacral mass, is associated with multations of HLXB9 gene. The aim of this study was to clearly define The clinical manifistations 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 HLAXB9 gene mutation could take place in sparadic cases of CS without a typical hemisacrum. (c) 2007 Elsevier Inc. All rights reserved.