Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Joanna Kenny & Melissa M. Lees & Susan Drury & Angela Barnicoat & William van’t Hoff & Rodger Palmer & Deborah Morrogh & Jonathan J. Waters & Nichol
- چاپ و سال / کشور: 2011
Description
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.
Pediatr Nephrol (2011) 26:1331–1334 DOI 10.1007/s00467-011-1884-z Received: 6 January 2011 / Revised: 14 March 2011 / Accepted: 16 March 2011 / Published online: 20 May 2011
