title: Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
abstract: 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.
authors: North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, WC1N 3JH, UK.
authors: Joanna
authors: J
authors: Kenny
authors: Melissa M
authors: MM
authors: Lees
authors: Susan
authors: S
authors: Drury
authors: Angela
authors: A
authors: Barnicoat
authors: William
authors: W
authors: Van't Hoff
authors: Rodger
authors: R
authors: Palmer
authors: Deborah
authors: D
authors: Morrogh
authors: Jonathan J
authors: JJ
authors: Waters
authors: Nicholas J
authors: NJ
authors: Lench
authors: Detlef
authors: D
authors: Bockenhauer
references: Pediatr Nephrol. 1999 Oct;13(8):668-71
references: 10502124
references: J Med Genet. 2003 Apr;40(4):285-9
references: 12676901
references: J Clin Invest. 1989 May;83(5):1494-9
references: 2708521
references: N Engl J Med. 2010 Oct 28;363(18):1774; author reply 1774-5
references: 21038516
references: N Engl J Med. 2010 Mar 25;362(12):1102-9
references: 20335586
references: Am J Hum Genet. 2006 Feb;78(2):179-92
references: 16358214
references: J Med Genet. 2005 Apr;42(4):307-13
references: 15805156
references: Horm Res. 2004;62 Suppl 3:60-5
references: 15539801
references: J Clin Pathol. 1996 Nov;49(11):881-8
references: 8944605
references: Kidney Int. 2006 Jun;69(12):2261-7
references: 16688119
references: N Engl J Med. 2002 Sep 26;347(13):983-91
references: 12324554
references: J Pediatr. 2010 Aug;157(2):296-302
references: 20394945
references: Clin Dysmorphol. 2004 Oct;13(4):199-204
references: 15365454
references: Nephrol Dial Transplant. 2010 Nov;25(11):3504-9
references: 20466674