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See detailMutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis
Livadariu, E.; Auriemma, R. S.; Rydlewski, C. et al

in European Journal of Endocrinology (2011)

Objective: Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CaSR) plays a key role in maintaining calcium homeostasis and study of the CASR ... [more ▼]

Objective: Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CaSR) plays a key role in maintaining calcium homeostasis and study of the CASR gene can be clinically useful in determining etiology and appropriate therapeutic approaches. We report two cases of novel CASR gene mutations that illustrate the varying clinical presentations and discuss these in terms of the current understanding of CaSR function. Patients and Methods: A 16 yr-old patient had mild hypercalcemia associated with low-normal urinary calcium excretion and normal-to-high parathyroid hormone (PTH) levels. Because of negative family history, familial hypocalciuric hypercalcemia (FHH) was originally excluded. The second patient was a 54 yr-old man with symptomatic hypocalcemia, hyperphosphatemia, low PTH, and mild hypercalciuria. Familial investigation revealed the same phenotype in the patient's sister. The coding region of the CaSR gene was sequenced in both probands and their available first-degree relatives. Results: The first patient had a novel heterozygous inactivating CASR mutation in exon 4, which predicted a p.A423K change; genetic analysis was negative in the parents. The second patient had a novel heterozygous activating CASR mutation in exon 6, which predicted a p.E556K change; the affected sister of the proband was also positive. Conclusions: We reported two novel heterozygous mutations of the CASR gene, an inactivating mutation in exon 4 and the first activating mutation reported to date in exon 6. These cases illustrate the importance of genetic testing of CASR gene to aid correct diagnosis and to assist in clinical management. [less ▲]

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See detailImpact of two novel mutations of calcium sensing receptor (CaSR) gene on calcium metabolism : two clinical case reports
Livadariu, E.; Auriemma, R. S.; Rydlewski, C. et al

in Endocrine Abstracts - 13th European Congress of Endocrinology (2011)

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See detailDeux nouvelles mutations dans le gène du récepteur du calcium (CASR) entraînant respectivement une hypo- et une hypercalcémie
Thonnard, Anne-Sophie ULg; Livadariu, Elena ULg; Rydlewski, C. et al

in Annales d'Endocrinologie (2010, September), 71(5), 367

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See detailDeux nouvelles mutations dans le gène du récepteur du calcium (CASR) entraînant respectivement une hypo- et une hypercalcémie
Thonnard, Anne-Sophie ULg; Livadariu, E.; Rydlewski, C. et al

in 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September)

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See detailTwo novel mutations of the calcium sensing receptor gene
Livaradiu, E.; Rydlewski, C.; Hamoir, Etienne ULg et al

in 18th Meeting of the Belgian Endocrine and Metabolic societies : Bruxelles, 25 octobre 2008 (2008, October)

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See detailTwo Novel Mutations of the Calcium Sensing Receptor gene
Livadariu, E.; Rydlewski, C.; Hamoir, Etienne ULg et al

in ENDO 2008: 90th Annual Meeting of the Endocrine Society - Abstract book (2008)

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