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
Novel mutation of the calcium sensing receptor gene in familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism
โ Scribed by Simone Caixeta de Andrade; Suely Keiko Kohara; Lilia D'Souza-Li
- Book ID
- 108703534
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 119 KB
- Volume
- 65
- 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
Familial hypocalciuric hypercalcemia (FHH) is caused by heterozygous loss-of-function mutations in the calcium-sensing receptor (CASR), in which the lifelong hypercalcemia is generally asymptomatic. Homozygous loss-of-function CASR mutations manifest as neonatal severe hyperparathyroidism (NSHPT), a