Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1.

Abstract

Sotos syndrome is a common genetic overgrowth syndrome caused by a mutation of the NSD1 gene, which is located at chromosome 5q35 and normally encodes a histone methyltransferase protein. The general characteristics of this syndrome include a characteristic facial appearance, developmental delay, and overgrowth, resulting in macrocephaly and tall stature. We describe rhabdomyolysis and hypocalcemia due to hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome. He was diagnosed with Sotos syndrome based on the typical phenotype and has a heterozygous nonsense mutation (c.4710C>A [p.Cys1570*]) of the NSD1 gene, which causes a premature stop codon and a truncating protein mutation. Hypoparathyroidism has never been described in Sotos syndrome. This report may therefore expand the phenotypic spectrum of this syndrome.

• Authors: Karn Wejaphikul, Sung Yoon Cho, Rimm Huh, Younghee Kwun, Jieun Lee, Chang-Seok Ki, Dong-Kyu Jin
• Journal: Annals of clinical and laboratory science (Ann Clin Lab Sci) Vol. 45 Issue 2 Pg. 215-8 ( 2015) ISSN: 1550-8080 [Electronic] United States
• PMID: 25887879 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2015 by the Association of Clinical Scientists, Inc.

Chemical References

• Intracellular Signaling Peptides and Proteins
• Nuclear Proteins
• Histone Methyltransferases
• Histone-Lysine N-Methyltransferase
• NSD1 protein, human

Topics

• Asian People (genetics)
• Child, Preschool
• DNA Mutational Analysis
• Histone Methyltransferases
• Histone-Lysine N-Methyltransferase
• Humans
• Hypoparathyroidism (complications, genetics)
• Intracellular Signaling Peptides and Proteins (genetics)
• Male
• Mutation (genetics)
• Nuclear Proteins (genetics)
• Sotos Syndrome (complications, genetics)