Merello Elisa, De Marco Patrizia, Mascelli Samantha, Raso Alessandro, Calevo Maria Grazia, Torre Michele, Cama Armando, Lerone Margherita, Martucciello Giuseppe, Capra Valeria
U.O. Neurochirurgia, Istituto G. Gaslini, Genova, Italy.
Birth Defects Res A Clin Mol Teratol. 2006 Mar;76(3):205-9. doi: 10.1002/bdra.20234.
Caudal regression syndrome (CRS) is a congenital heterogeneous constellation of caudal anomalies that include varying degrees of agenesis of the spinal column, anorectal malformations (ARMs), genitourinary anomalies, and pulmonary hypoplasia. The combination of a particular form of hemisacrum, ARM, and presacral mass (teratoma, anterior meningocele, rectal duplication, or a combination thereof) constitutes Currarino syndrome (CS). Previous reports have shown HLXB9 to be a major causative gene for CS. The aim of our study was to reevaluate the involvement of the HLXB9 gene in a larger group of CRS cases.
SSCP analysis was performed on a series of 48 CRS cases without CS. A case-control approach was used to test whether an alteration of the length of the GCC triplets in exon 1 of the HLXB9 gene could contribute to CRS risk.
No pathological variants of the HLXB9 gene were identified by mutational analysis. We also found no evidence that the length of the GCC triplets had any effect on the CRS risk, even when the allelic frequencies were stratified according to the presence or absence of ARMs and the type of sacral agenesis.
We confirmed that the HLXB9 gene is not involved in the pathogenesis of CRS, and to date is known as a causative gene only for CS.
尾椎退化综合征（CRS）是一种先天性的尾部异常的异质性组合，包括不同程度的脊柱发育不全、肛门直肠畸形（ARM）、泌尿生殖系统异常和肺发育不全。一种特殊形式的半骶骨、ARM和骶前肿块（畸胎瘤、前脑脊膜膨出、直肠重复畸形或它们的组合）的组合构成了库拉里诺综合征（CS）。先前的报道表明HLXB9是CS的主要致病基因。我们研究的目的是在更大一组CRS病例中重新评估HLXB9基因的参与情况。
对一系列48例无CS的CRS病例进行单链构象多态性（SSCP）分析。采用病例对照方法来检测HLXB9基因外显子1中GCC三联体长度的改变是否会增加CRS风险。
通过突变分析未发现HLXB9基因的病理性变异。我们也没有发现证据表明GCC三联体的长度对CRS风险有任何影响，即使根据ARM的有无和骶骨发育不全的类型对等位基因频率进行分层。
我们证实HLXB9基因不参与CRS的发病机制，并且迄今为止仅作为CS的致病基因为人所知。
