ECE2011 Poster Presentations Clinical case reports (73 abstracts)
Impact of two novel mutations of calcium sensing receptor (CaSR) gene on calcium metabolism: two clinical case reports
Elena Livadariu 1 , Renata Simona Auriemma 1 , Catherine Rydlewski 2 , Silvia Vandeva 1 , Anne Sophie Thonnard 1 , Daniela Betea 1 , Adrian F Daly 1 & Albert Beckers 1
1Department of Endocrinology, University of Liege, Liege, Belgium; 2Division of Molecular Genetics, Department of Clinical Biology, University Hospital Erasme of Bruxelles, Bruxelles, Belgium.
Disorders of calcium metabolism arise in a familial or sporadic setting. The resulting hypo- or hypercalcemia can induce serious clinical features. Calcium sensing receptor (CaSR) plays a key role in maintaining this balance and its molecular investigation is useful to determine the nature of a certain condition or to choose the appropriate therapeutic approach.
In the present study we reported two clinical cases. A 16-year-old patient had a mild hypercalcemia associated with normal-to-low urinary calcium excretion and normal-to-high parathyroid hormone (PTH) levels. Because of family negative phenotype, familial hypocalciuric hypercalcemia was originally excluded and bilateral inferior parathyroidectomy was realized. Conversely, a 54-year-old man showed a symptomatic hypocalcemia, low PTH levels, hyperphosphatemia and slight hypercalciuria. The evaluation of all family members revealed the same phenotype in the sister. The whole coding region of the CaSR gene of both probands and their first-degree relatives was sequenced. In the first patient a novel double mutation predicting a change from alanine to lysine was found in codon 423 (A423K) of exon 4, with genetic analysis being negative in the parents. The latter patient showed a heterozygous novel missense mutation resulting in a change from glutamic acid to lysine in codon 556 (E556K) of exon 6, his sister also being positive. In conclusion, we reported two novel mutations of the CaSR gene, a double inactivating mutation in codon 4 and the first activating mutation in codon 6. This study demonstrates the importance of genetic testing of CaSR to assist in management and therapeutic decision.
Volume 26
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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