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Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

2000; Wiley; Volume: 16; Issue: 4 Linguagem: Inglês

10.1002/1098-1004(200010)16

1098-1004

Geoffrey N. Hendy, Lilia Freire Rodrigues D’Souza-Li, Bing Yang, Lucie Canaff, David E.C. Cole,

Parathyroid Disorders and Treatments

Human MutationVolume 16, Issue 4 p. 281-296 Mutation Update Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia Geoffrey N. Hendy, Corresponding Author Geoffrey N. Hendy [email protected] Departments of Medicine, Physiology, and Human Genetics, McGill University, and Calcium Research Laboratory, Royal Victoria Hospital, Montreal, Quebec, CanadaCalcium Research Laboratory, Rm. H4.67, Royal Victoria Hospital, 687 Pine Avenue West, Montreal, Quebec H3A 1A1, CanadaSearch for more papers by this authorLilia D'Souza-Li, Lilia D'Souza-Li Departments of Medicine, Physiology, and Human Genetics, McGill University, and Calcium Research Laboratory, Royal Victoria Hospital, Montreal, Quebec, CanadaSearch for more papers by this authorBing Yang, Bing Yang Departments of Medicine, Physiology, and Human Genetics, McGill University, and Calcium Research Laboratory, Royal Victoria Hospital, Montreal, Quebec, CanadaSearch for more papers by this authorLucie Canaff, Lucie Canaff Departments of Medicine, Physiology, and Human Genetics, McGill University, and Calcium Research Laboratory, Royal Victoria Hospital, Montreal, Quebec, CanadaSearch for more papers by this authorDavid E.C. Cole, David E.C. Cole Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics, University of Toronto, and Banting Institute, Toronto, Ontario, CanadaSearch for more papers by this author Geoffrey N. Hendy, Corresponding Author Geoffrey N. Hendy [email protected] Departments of Medicine, Physiology, and Human Genetics, McGill University, and Calcium Research Laboratory, Royal Victoria Hospital, Montreal, Quebec, CanadaCalcium Research Laboratory, Rm. H4.67, Royal Victoria Hospital, 687 Pine Avenue West, Montreal, Quebec H3A 1A1, CanadaSearch for more papers by this authorLilia D'Souza-Li, Lilia D'Souza-Li Departments of Medicine, Physiology, and Human Genetics, McGill University, and Calcium Research Laboratory, Royal Victoria Hospital, Montreal, Quebec, CanadaSearch for more papers by this authorBing Yang, Bing Yang Departments of Medicine, Physiology, and Human Genetics, McGill University, and Calcium Research Laboratory, Royal Victoria Hospital, Montreal, Quebec, CanadaSearch for more papers by this authorLucie Canaff, Lucie Canaff Departments of Medicine, Physiology, and Human Genetics, McGill University, and Calcium Research Laboratory, Royal Victoria Hospital, Montreal, Quebec, CanadaSearch for more papers by this authorDavid E.C. Cole, David E.C. Cole Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics, University of Toronto, and Banting Institute, Toronto, Ontario, CanadaSearch for more papers by this author First published: 26 September 2000 https://doi.org/10.1002/1098-1004(200010)16:4 3.0.CO;2-ACitations: 187AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract The calcium-sensing receptor (CASR) is a plasma membrane G protein coupled receptor that is expressed in the parathyroid hormone (PTH) producing chief cells of the parathyroid gland and the cells lining the kidney tubule. By virtue of its ability to sense small changes in circulating calcium concentration ([Ca2+]o) and to couple this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, the CASR plays an essential role in maintaining mineral ion homeostasis. Inherited abnormalities of the CASR gene located on chromosome 3p13.3-21 can cause either hypercalcemia or hypocalcemia depending upon whether they are inactivating or activating, respectively. Heterozygous loss-of-function mutations give rise to familial (benign) hypocalciuric hypercalcemia (FHH) in which the lifelong hypercalcemia is asymptomatic. The homozygous condition manifests itself as neonatal severe hyperparathyroidism (NSHPT), a rare disorder characterized by extreme hypercalcemia and the bony changes of hyperparathyroidism which occur in infancy. The disorder autosomal dominant hypocalcemia (ADH) is due to gain-of-function mutations in the CASR gene. ADH may be asymptomatic or present with neonatal or childhood seizures. A common polymorphism in the intracellular tail of the CASR, Ala to Ser at position 986, has a modest effect on the serum calcium concentration in healthy individuals. Hum Mutat 16:281–296, 2000. © 2000 Wiley-Liss, Inc. Citing Literature Volume16, Issue4October 2000Pages 281-296 RelatedInformation