Related Experiment Video For CDC73
Updated: Mar 30, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene
Takako Takeuchi1, Yuko Yoto1, Takeshi Tsugawa1
1Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan.
Abstract:
A 13-yr-old boy who complained of persistent nausea, vomiting and weight loss had hypercalcemia and an elevated intact PTH level. Computed tomography confirmed two tumors in the thyroid gland. The tumors were surgically removed and pathologically confirmed as parathyroid adenoma. Because his maternal aunt and grandmother both had histories of parathyroid tumors, genetic investigation was undertaken for him, and a germline frameshift mutation of the CDC73 gene was identified. CDC73 gene analysis should be done on individuals who are at risk of familial hyperparathyroidism, including those who are asymptomatic, and they should be followed for potential primary hyperparathyroidism and associated disorders including resultant parathyroid carcinoma.
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