Abstract | 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: 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.
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Authors | Elena Livadariu, Renata S Auriemma, Catherine Rydlewski, Silvia Vandeva, Etienne Hamoir, Maria C Burlacu, Sylvie Maweja, Anne S Thonnard, Daniela Betea, Gilbert Vassart, Adrian F Daly, Albert Beckers |
Journal | European journal of endocrinology
(Eur J Endocrinol)
Vol. 165
Issue 2
Pg. 353-8
(Aug 2011)
ISSN: 1479-683X [Electronic] England |
PMID | 21566074
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Receptors, Calcium-Sensing
- Calcium
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Topics |
- Adolescent
- Calcium
(metabolism)
- DNA Mutational Analysis
- Female
- Homeostasis
(genetics, physiology)
- Humans
- Hypercalcemia
(genetics)
- Hypocalcemia
(genetics)
- Male
- Middle Aged
- Mutation
(physiology)
- Pedigree
- Receptors, Calcium-Sensing
(genetics)
- Siblings
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