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Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia

โœ Scribed by Bryan K. Ward; Aaron L. Magno; Bradley J. Blitvich; Alexander J. Rea; Bronwyn G. A. Stuckey; John P. Walsh; Thomas Ratajczak

Book ID
108703410
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
265 KB
Volume
64
Category
Article
ISSN
0300-0664

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Neonatal severe hyperparathyroidism (NSHPT) is considered an autosomalrecessive disorder, attributable in many cases to homozygous inactivating mutations of the Ca ++ -sensing receptor (CASR) gene at 3q13.3-21. Most heterozygotes are clinically asymptomatic but manifest as familial (benign) hypocalc

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We studied family members of a large kindred expressing both familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) and found, by PCR amplification of the extracellular calcium-sensing receptor (CASR) gene exons and flanking intronic sequences, that FHH individual