North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, WC1N 3JH, UK.
Pediatr Nephrol. 2011 Aug;26(8):1331-4. doi: 10.1007/s00467-011-1884-z. Epub 2011 May 20.
Sotos syndrome is characterized by overgrowth, a typical facial appearance, and learning difficulties. It is caused by heterozygous mutations, including deletions, of NSD1 located at chromosome 5q35. Here we report two unrelated cases of Sotos syndrome associated with nephrocalcinosis. One patient also had idiopathic infantile hypercalcemia. Genetic investigations revealed heterozygous deletions at 5q35 in both patients, encompassing NSD1 and SLC34A1 (NaPi2a). Mutations in SLC34A1 have previously been associated with hypercalciuria/nephrolithiasis. Our cases suggest a contiguous gene deletion syndrome including NSD1 and SLC34A1 and provide a potential genetic basis for idiopathic infantile hypercalcemia.
Sotos 综合征的特征为过度生长、典型面容和学习困难。它是由位于 5q35 染色体上的 NSD1 杂合突变引起的，包括缺失。在这里，我们报告了两例与肾钙质沉着症相关的 Sotos 综合征无关的病例。一名患者还患有特发性婴儿高钙血症。基因研究显示，两名患者均存在 5q35 杂合缺失，包括 NSD1 和 SLC34A1（NaPi2a）。SLC34A1 的突变先前与高钙尿症/肾结石有关。我们的病例提示包括 NSD1 和 SLC34A1 的连续基因缺失综合征，并为特发性婴儿高钙血症提供了潜在的遗传基础。
