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Citations to this article

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
S H Pearce, … , C R Paterson, M P Whyte
S H Pearce, … , C R Paterson, M P Whyte
Published December 1, 1995
Citation Information: J Clin Invest. 1995;96(6):2683-2692. https://doi.org/10.1172/JCI118335.
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Research Article Article has an altmetric score of 9

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

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Abstract

Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We have undertaken studies to characterize such CaR mutations in FBH and NHPT and to explore methods for their more rapid detection. Nine unrelated kindreds (39 affected, 32 unaffected members) with FBH and three unrelated children with sporadic NHPT were investigated for mutations in the 3,234-bp coding region of the CaR gene by DNA sequencing. Six novel heterozygous (one nonsense and five missense) mutations were identified in six of the nine FBH kindreds, and two de novo heterozygous missense mutations and one homozygous frame-shift mutation were identified in the three children with NHPT. Our results expand the phenotypes associated with CaR mutations to include sporadic NHPT. Single-stranded conformational polymorphism analysis was found to be a sensitive and specific mutational screening method that detected > 85% of these CaR gene mutations. The single-stranded conformational polymorphism identification of CaR mutations may help in the distinction of FBH from mild primary hyperparathyroidism which can be clinically difficult. Thus, the results of our study will help to supplement the clinical evaluation of some hypercalcemic patients and to elucidate further the structure-function relationships of the CaR.

Authors

S H Pearce, D Trump, C Wooding, G M Besser, S L Chew, D B Grant, D A Heath, I A Hughes, C R Paterson, M P Whyte

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Citations to this article in year 2011 (10)

Title and authors Publication Year
Molecular Understanding and Assessment of Hypoparathyroidism
HS Yi, B Choi, S Lee
Endocrinology and Metabolism 2011
A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation
S Sfar, AA Bzéouich, E Kerkeni, S Bouaziz, MF Najjar, L Chouchane, K Monastiri
Molecular Biology Reports 2011
Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism
K Frank-Raue, G Leidig-Bruckner, C Haag, E Schulze, A Lorenz, H Schmitz-Winnenthal, F Raue
Clinical Endocrinology 2011
Disorders of calcium metabolism and parathyroid disease
MS Cooper
Best Practice & Research Clinical Endocrinology & Metabolism 2011
Identification of rare and frequent variants of the CASR gene by high-resolution melting
PH Nissen, SE Christensen, SA Ladefoged, K Brixen, L Heickendorff, L Mosekilde
Clinica Chimica Acta 2011
Current Topics in Developmental Biology
JE Qualls, PJ Murray
Cancer and Development 2011
Familial hypocalciuric hypercalcaemia: a review
SE Christensen, PH Nissen, P Vestergaard, L Mosekilde
Current opinion in endocrinology, diabetes, and obesity 2011
Different vitamin D substrate-product relationship after oral vitamin D supplementation in familial benign hypercalcemia, primary hyperparathyroidism, and healthy controls
M Bevilacqua, M Invernizzi, V Righini, S Carda, C Cisari
European Journal of Endocrinology 2011
Neonatal Hyperparathyroidism with a Heterozygous Calcium-Sensing Receptor (CASR) R185Q Mutation: Clinical Benefit from Cinacalcet
CM Reh, GN Hendy, DE Cole, DD Jeandron
The Journal of clinical endocrinology and metabolism 2011
Handbook of Parathyroid Diseases
AA Khan, OH Clark
2011

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