Clinical features and HLXB9 gene mutation of a sporadic Chinese Currarino's syndrome case |
| |
Authors: | Liang Ying Wang Jun Cai Wei |
| |
Affiliation: | Department of Pediatric Surgery, Xin Hua Hospital Affiliated to School of Medicine, Shanghai Jiaotong University, Shanghai 200092, China |
| |
Abstract: | Background/PurposeThe 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.MethodsWe 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.ResultsA previously unreported heterozygous missense mutation of HLXB9 gene was detected in the child.ConclusionsThe HLXB9 gene mutation could take place in sporadic cases of CS without a typical hemisacrum. |
| |
Keywords: | Currarino's syndrome HLXB9 gene Mutation |
本文献已被 ScienceDirect PubMed 等数据库收录! |
|