Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p . N 802 on receptor activity

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity Anne-Sophie Lia-Baldini, Corinne Magdelaine, Angélique Nizou, Coraline Airault, Jean-Pierre Salles, Pierre Moulin, Brigitte Delemer, Mina Aitouares, Benoı̂t Funalot, Franck Sturtz and Anne Lienhardt-Roussie EA 6309 – Maintenance Myélinique et Neuropathies Périphériques, Faculté de Médecine – Biochimie, Université de Limoges, 6ème étage, 2 rue du Dr Marcland, 87025 Limoges, France, Laboratoire de Biochimie, Centre Hospitalo-Universitaire de Limoges, Limoges, France, Unité d’Endocrinologie et des Maladies Osseuses, Centre de références des maladies rares du métabolisme phosphocalcique, Hôpital des Enfants, INSERM Unité 563 (CPTP), Université de Toulouse, Toulouse, France, Hôpital Robert Debré, CHU de Reims, Service Endocrinologie, Reims, France, Service de Diabétologie et d’Endocrinologie, Centre Hospitalier, Troyes, France and Service de Pédiatrie, Centre de référence maladies rares du métabolisme phosphocalcique, Centre Hospitalo-Universitaire Dupuytren, Limoges, France

[1]  J. Connell,et al.  Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. , 2012, Human molecular genetics.

[2]  F. Cetani,et al.  A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia. , 2011, European journal of endocrinology.

[3]  E. Hamoir,et al.  Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis. , 2011, European journal of endocrinology.

[4]  E. Brown,et al.  A novel mutation of the primary protein kinase C phosphorylation site in the calcium-sensing receptor causes autosomal dominant hypocalcemia. , 2011, European journal of endocrinology.

[5]  C. Schöfl,et al.  Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors. , 2008, The Journal of clinical endocrinology and metabolism.

[6]  L. Mosekilde,et al.  Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. , 2007, The Journal of clinical endocrinology and metabolism.

[7]  A. Spiegel,et al.  Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators , 2007, Journal of cellular and molecular medicine.

[8]  G. Hendy,et al.  Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status. , 2007, The Journal of clinical endocrinology and metabolism.

[9]  B. Harding,et al.  Characterisation of 25 calcium-sensing receptor mutations in disorders of calcium homeostasis , 2007 .

[10]  D. Rognan,et al.  Delineating a Ca2+ Binding Pocket within the Venus Flytrap Module of the Human Calcium-sensing Receptor* , 2005, Journal of Biological Chemistry.

[11]  Kenneth A Jacobson,et al.  A Region in the Seven-transmembrane Domain of the Human Ca2+ Receptor Critical for Response to Ca2+* , 2005, Journal of Biological Chemistry.

[12]  F. Schmitz,et al.  Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis. , 2005, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

[13]  D. Rognan,et al.  Delineating a Ca Binding Pocket within the Venus Flytrap Module of the Human Calcium-sensing Receptor* , 2005 .

[14]  G. Hendy,et al.  CASRdb: calcium‐sensing receptor locus‐specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia , 2004, Human mutation.

[15]  B. Teh,et al.  Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications , 2004, Journal of Medical Genetics.

[16]  G. Hendy,et al.  Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. , 2003, The Journal of clinical endocrinology and metabolism.

[17]  P. Houillier,et al.  Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. , 2002, Journal of the American Society of Nephrology : JASN.

[18]  E. Brown,et al.  Activating mutations of the calcium-sensing receptor: management of hypocalcemia. , 2001, The Journal of clinical endocrinology and metabolism.

[19]  R. Ferrell,et al.  Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia. , 2000, Molecular genetics and metabolism.

[20]  G. Hendy,et al.  Mutations of the calcium‐sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia , 2000, Human mutation.

[21]  J. Rastad,et al.  Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. , 2000, The Journal of clinical endocrinology and metabolism.

[22]  U. Gether.  Uncovering molecular mechanisms involved in activation of G protein-coupled receptors. , 2000, Endocrine reviews.

[23]  A. Spiegel,et al.  A missense mutation in the seventh transmembrane domain constitutively activates the human Ca2+ receptor , 1999, FEBS letters.

[24]  M. Coulthard,et al.  A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. , 1996, The New England journal of medicine.

[25]  E. Brown,et al.  Expression and Characterization of Inactivating and Activating Mutations in the Human Ca2+o-sensing Receptor* , 1996, The Journal of Biological Chemistry.

[26]  J. Baron,et al.  Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. , 1996, Human molecular genetics.

[27]  S. Pearce,et al.  Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. , 1995, The Journal of clinical investigation.

[28]  E. Brown,et al.  Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. , 1994, The Journal of clinical investigation.

[29]  J. Seidman,et al.  Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism , 1993, Cell.

[30]  M. Hediger,et al.  Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid , 1993, Nature.

[31]  R. Lefkowitz.  G protein—coupled receptor kinases , 1993, Cell.