Reference : Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact o...
Scientific journals : Article
Human health sciences : Endocrinology, metabolism & nutrition
http://hdl.handle.net/2268/92088
Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis
English
Livadariu, E. [> > > >]
Auriemma, R. S. [> > > >]
Rydlewski, C. [> > > >]
BETEA, Daniela [Centre Hospitalier Universitaire de Liège - CHU > > Endocrinologie clinique]
Vandeva, S. [> > > >]
HAMOIR, Etienne [Centre Hospitalier Universitaire de Liège - CHU > > Chirurgie abdominale- endocrinienne et de transplantation]
Burlacu, M. C. [> > > >]
MAWEJA, Sylvie [Centre Hospitalier Universitaire de Liège - CHU > > Chirurgie abdominale- endocrinienne et de transplantation]
Thonnard, A. S. [> > > >]
Vassart, G. [> > > >]
Daly, Adrian [Université de Liège - ULg > Département des sciences cliniques > Endocrinologie]
Beckers, Albert mailto [> >]
2011
European Journal of Endocrinology
BioScientifica Ltd
Yes (verified by ORBi)
International
0804-4643
1479-683X
Bristol
United Kingdom
[en] 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.
http://hdl.handle.net/2268/92088
10.1530/EJE-11-0121

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