Terenziani Monica, Sardella Michele, Gamba Beatrice, Testi Maria Adele, Spreafico Filippo, Ardissino Gianluigi, Fedeli Fausto, Fossati-Bellani Franca, Radice Paolo, Perotti Daniela
Department of Medical Oncology, Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.
Pediatr Nephrol. 2009 Jul;24(7):1413-7. doi: 10.1007/s00467-008-1056-y. Epub 2008 Dec 2.
The WT1 gene plays a crucial role in urogenital and gonadal development. Germline WT1 alterations have been described in a wide spectrum of pathological conditions, including kidney diseases, genital abnormalities and Wilms tumor (WT), frequently occurring in combination. We report on a novel WT1 nonsense mutation (c.1105C>T), introducing a premature stop codon in exon 8 (p.Q369X), in a young XY male patient who presented with bilateral cryptorchidism, nystagmus, mild proteinuria and WT, but no sign of severe nephropathy. Although the majority of congenital urogenital abnormalities are not due to constitutional defects of the WT1 gene, our findings provide a rational for considering WT1 mutational analysis as one of the screening options in newborns with congenital defects of the urogenital tract due to the associated high risk of WT.
WT1基因在泌尿生殖系统和性腺发育中起着关键作用。种系WT1改变已在多种病理状况中被描述，包括肾脏疾病、生殖器异常和肾母细胞瘤（WT），这些情况常合并出现。我们报告了一名年轻的XY男性患者，其存在双侧隐睾、眼球震颤、轻度蛋白尿和WT，但无严重肾病迹象，该患者携带一种新的WT1无义突变（c.1105C>T），在外显子8中引入了一个过早的终止密码子（p.Q369X）。虽然大多数先天性泌尿生殖系统异常并非由WT1基因的体质性缺陷所致，但由于WT相关的高风险，我们的研究结果为将WT1突变分析作为先天性泌尿生殖道缺陷新生儿的筛查选项之一提供了依据。
