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Pediatric Nephrology

, Volume 26, Issue 8, pp 1331–1334 | Cite as

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

  • Joanna Kenny
  • Melissa M. Lees
  • Susan Drury
  • Angela Barnicoat
  • William van’t Hoff
  • Rodger Palmer
  • Deborah Morrogh
  • Jonathan J. Waters
  • Nicholas J. Lench
  • Detlef BockenhauerEmail author
Brief Report

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.

Keywords

Idiopathic infantile hypercalcemia Nephrocalcinosis SLC34A1 Sotos syndrome 

Notes

Acknowledgements

DB is supported by the Special Trustees of Great Ormond Street Hospital.

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Copyright information

© IPNA 2011

Authors and Affiliations

  • Joanna Kenny
    • 1
  • Melissa M. Lees
    • 1
  • Susan Drury
    • 1
  • Angela Barnicoat
    • 1
  • William van’t Hoff
    • 2
  • Rodger Palmer
    • 1
  • Deborah Morrogh
    • 1
  • Jonathan J. Waters
    • 1
  • Nicholas J. Lench
    • 1
  • Detlef Bockenhauer
    • 2
    Email author
  1. 1.North East Thames Regional Genetics ServiceGreat Ormond Street Hospital for Children NHS TrustLondonUK
  2. 2.Department of NephrologyGreat Ormond Street Hospital for Children NHS TrustLondonUK

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