A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism
| Autor: | Norbert Weyerbrock, Cornelia Dotzenrath, Marios Papadakis, Natalie Meurer, Anke Meyer, Theodora Margariti |
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| Rok vydání: | 2017 |
| Předmět: |
Male
medicine.medical_specialty endocrine system diseases Endocrinology Diabetes and Metabolism 030209 endocrinology & metabolism medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Germany Internal medicine medicine Humans Missense mutation Gene Mutation Familial hypocalciuric hypercalcemia business.industry General Medicine Middle Aged Hyperparathyroidism Primary medicine.disease Endocrinology Hypercalcemia 030211 gastroenterology & hepatology Calcium-sensing receptor business Receptors Calcium-Sensing Novel mutation Primary hyperparathyroidism |
| Zdroj: | HORMONES. 15:557-559 |
| ISSN: | 1109-3099 |
| DOI: | 10.14310/horm.2002.1711 |
| Popis: | Objective: The coexistence of FHH and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence demonstrated a causal relationship between familial hypocalciuric hypercalcemia (FHH) and the presence of inactivating mutations in the calcium-sensing receptor gene. Method: We herein report a 60-year-old German patient, who was referred for hypercalcemia, and increased PTH levels, found incidentally during normal routine blood tests. Results: The patient underwent surgical exploration and the diagnosis of PHPT was histologically confirmed. One week later, the follow-up blood tests, revealed a recurrent hypercalcemia and the possibility of FHH was reconsidered. Genetic analysis was performed and revealed a novel heterozygous CaSR single missense mutation (Arg551Gly) within the extracellular CaSR domain. Conclusion: We report a novel heterozygous missense inactivating mutation within the extracellular CaSR domain in a German subject with FHH and histologically proven PHPT. |
| Databáze: | OpenAIRE |
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