Research Center for Medical Genetics, Moscow 115522, Russia.
Far Eastern Federal University, Vladivostok 690090, Russia.
Hum Mol Genet. 2019 Oct 1;28(19):3323-3326. doi: 10.1093/hmg/ddz168.
WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of Wilms' tumor (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (mental retardation). It is associated with WAGR-region deletions in the 11p13 chromosome region. Our previous study of congenital aniridia patients revealed a noticeable number of aniridia patients with WAGR-region deletions but without Wilms' tumor in their medical history. We assessed the involvement of other neighboring genes from affected chromosome regions in the patients with and without Wilms' tumor. Reliable confidence was obtained for the LMO2 gene, which is significantly more often deleted in patients with nephroblastoma. Thus, our study presents genetic evidence that the development of Wilms tumors in WAGR syndrome patients should be attributed to the deletion of WT1 and LMO2 rather than WT1 only.
WAGR 综合征（OMIM#194072）是一种罕见的遗传疾病，由肾母细胞瘤（Wilms 瘤）、虹膜缺失、泌尿生殖系统异常和智力障碍（智力迟钝）组成。它与 11p13 染色体区域的 WAGR 区域缺失有关。我们之前对先天性虹膜缺失患者的研究发现，相当数量的虹膜缺失患者存在 WAGR 区域缺失，但在其病史中没有 Wilms 瘤。我们评估了有无 Wilms 瘤的患者受影响染色体区域的其他相邻基因的参与情况。我们获得了 LMO2 基因的可靠置信度，该基因在患有肾母细胞瘤的患者中更常缺失。因此，我们的研究提供了遗传证据，表明 WAGR 综合征患者的 Wilms 瘤的发生应归因于 WT1 和 LMO2 的缺失，而不仅仅是 WT1。
