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

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

© 2015 by the Association of Clinical Scientists, Inc. 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 ch...

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Bibliographic Details
Main Authors: Wejaphikul K., Cho S., Huh R., Kwun Y., Lee J., Ki C., Jin D.
Format: Article
Published: Association of Clinical Scientists 2015
Subjects:
Immunology and Allergy
Microbiology
Immunology
Pathology and Forensic Medicine
Clinical Biochemistry
Medical Laboratory Technology
Hematology
Molecular Biology
Online Access:http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84929320335&origin=inward
http://cmuir.cmu.ac.th/handle/6653943832/38488
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Institution: Chiang Mai University
Description
Summary:© 2015 by the Association of Clinical Scientists, Inc. 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.

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