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01-08-2011 | Brief Report

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome

Authors: Joanna Kenny, Melissa M. Lees, Susan Drury, Angela Barnicoat, William van’t Hoff, Rodger Palmer, Deborah Morrogh, Jonathan J. Waters, Nicholas J. Lench, Detlef Bockenhauer

Published in: Pediatric Nephrology | Issue 8/2011

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.

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Title: Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome
Authors: Joanna Kenny
Melissa M. Lees
Susan Drury
Angela Barnicoat
William van’t Hoff
Rodger Palmer
Deborah Morrogh
Jonathan J. Waters
Nicholas J. Lench
Detlef Bockenhauer
Publication date: 01-08-2011
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Nephrology / Issue 8/2011
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-011-1884-z

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Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome

Abstract

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