期刊
PEDIATRIC NEPHROLOGY
卷 26, 期 8, 页码 1331-1334出版社
SPRINGER
DOI: 10.1007/s00467-011-1884-z
关键词
Idiopathic infantile hypercalcemia; Nephrocalcinosis; SLC34A1; Sotos syndrome
资金
- Special Trustees of Great Ormond Street Hospital
- Great Ormond Street Hospital Childrens Charity [V0901] Funding Source: researchfish
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.
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