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

• المؤلفون الرئيسيون: Wejaphikul K., Cho S., Huh R., Kwun Y., Lee J., Ki C., Jin D.
• التنسيق: مقال
• منشور في: Association of Clinical Scientists 2015
• الموضوعات: Immunology and Allergy; Microbiology; Immunology; Pathology and Forensic Medicine; Clinical Biochemistry; Medical Laboratory Technology; Hematology; Molecular Biology
• الوصول للمادة أونلاين: http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84929320335&origin=inward; http://cmuir.cmu.ac.th/handle/6653943832/38488
• المؤسسة: Chiang Mai University

© 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.