Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25.
Potocki-Lupski syndrome is a genomic disorder caused by duplication of 17p11.2. It is characterized by failure to thrive, intellectual disability, hypotonia, and behavioral difficulties. Structural renal anomalies have been observed in <10% of affected individuals. We present detailed clinical and molecular data on six patients with Potocki-Lupski syndrome, two of whom had renal abnormalities, and investigate the prevalence of kidney abnormalities in the mouse model for the syndrome. In contrast to affected humans, the mouse model does not demonstrate a renal phenotype. Comparison of the duplicated segment in patients with Potocki-Lupski syndrome and the renal phenotype and the syntenic duplicated region in the mouse model allowed us to suggest a 0.285 Mb critical region, including the FLCN gene that may be important for development of renal abnormalities in patients with this duplication.
波托茨基-卢普斯基综合征是一种由 17p11.2 重复引起的基因组疾病。其特征为生长迟滞、智力障碍、肌张力低下和行为困难。<10%的受影响个体存在结构性肾脏异常。我们提供了 6 名波托茨基-卢普斯基综合征患者的详细临床和分子数据，其中 2 名患者存在肾脏异常，并研究了该综合征小鼠模型中肾脏异常的发生率。与受影响的人类不同，该小鼠模型没有表现出肾脏表型。对波托茨基-卢普斯基综合征患者的重复片段与肾脏表型和小鼠模型中的同源重复区域进行比较，使我们能够提出一个 0.285Mb 的关键区域，包括 FLCN 基因，该基因可能对患者重复引起的肾脏异常的发生很重要。
