Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor

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• 作者：Katia Maruca^a ; Ilaria Brambilla^b ; Alessandra Mingione^c ; Lorenzo Bassi^b ; Silvia Capelli^a ; Caterina Brasacchio^c ; Laura Soldati^c ; Mariangela Cisternino^b ; Stefano Mora^a ; ^{mora.stefano@hsr.it}
• 关键词：Calcium-sensing receptor ; Autosomal dominant hypocalcemia ; Deletion ; Activating mutation ; Mutational analysis
• 刊名：Molecular and Cellular Endocrinology
• 出版年：2017
• 出版时间：5 January 2017
• 年：2017
• 卷：439
• 期：Complete
• 页码：187-193
• 全文大小：962 K
• 卷排序：439

文摘

A new activating mutation of CASR gene leads to a truncated tail. The in-vitro study shows that mutated receptor is more active than the wild-type. The patient had a prolonged QTc, but no clinical signs of hypocalcemia. No nephrocalcinosis was present despite high renal calcium excretion. The treatment did not normalized serum calcium and renal calcium excretion.