Garcia-Barceló Maria-Mercè, Lui Vincent Chi-Hang, So Man-ting, Miao Xiaoping, Leon Thomas Yuk-yu, Yuan Zhen-wei, Ngan Elly Sau-wai, Ehsan Toufique, Chung Patrick Ho-yu, Khong Pek-lan, Wong Kenneth Kak-yuen, Tam Paul Kwong-hang
Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
J Pediatr Surg. 2009 Oct;44(10):1892-8. doi: 10.1016/j.jpedsurg.2009.03.039.
The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in MNX1 motor neuron and pancreas homeobox 1 (previously HLXB9). Here, we report on the MNX1 mutations found in a family segregating CS and in 3 sporadic CS patients, as well as on the clinical characteristics of the affected individuals.
MNX1 mutations were identified by direct sequencing the coding regions, intron/exon boundaries of MNX1 in 5 CS Japanese family members and 3 Chinese sporadic cases and their parents.
There were 2 novel (P18PfsX37, R243W) and 2 previously described (W288G and IVS2 + 1G > A) mutations. These mutations were not found in 198 control individuals and are predicted to impair the functioning of the MNX1 protein.
The variability of the CS phenotype among related or unrelated patients bearing the same mutation advocates for differences in the genetic background of each individual and invokes the implication of additional CS susceptibility genes.
骶骨部分缺如、肛门直肠畸形和骶前肿块同时出现构成了库拉里诺综合征（CS），该综合征与MNX1运动神经元和胰腺同源盒1（先前称为HLXB9）的突变相关。在此，我们报告在一个分离CS的家族以及3例散发CS患者中发现的MNX1突变，以及受影响个体的临床特征。
通过直接测序5名日本CS家族成员、3例中国散发病例及其父母的MNX1编码区、内含子/外显子边界来鉴定MNX1突变。
发现了2种新的（P18PfsX37、R243W）和2种先前描述过的（W288G和IVS2 + 1G > A）突变。在198名对照个体中未发现这些突变，预计它们会损害MNX1蛋白的功能。
携带相同突变的相关或不相关患者中CS表型的变异性表明每个个体的遗传背景存在差异，并提示存在其他CS易感基因。
