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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Chromosomes, Human, Pair 5 / genetics
-
Comparative Genomic Hybridization
-
Female
-
Gene Deletion
-
Histone Methyltransferases
-
Histone-Lysine N-Methyltransferase
-
Humans
-
Hypercalcemia / genetics*
-
Hypercalcemia / physiopathology
-
Infant
-
Infant, Newborn
-
Intracellular Signaling Peptides and Proteins / genetics*
-
Mutation
-
Nephrocalcinosis / genetics*
-
Nephrocalcinosis / physiopathology
-
Nuclear Proteins / genetics*
-
Sodium-Phosphate Cotransporter Proteins, Type IIa / genetics*
-
Sotos Syndrome / complications*
-
Sotos Syndrome / genetics*
-
Sotos Syndrome / physiopathology
Substances
-
Intracellular Signaling Peptides and Proteins
-
Nuclear Proteins
-
SLC34A1 protein, human
-
Sodium-Phosphate Cotransporter Proteins, Type IIa
-
Histone Methyltransferases
-
Histone-Lysine N-Methyltransferase
-
NSD1 protein, human