A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
โ Scribed by Ho, Chrystal; Conner, David A.; Pollak, Martin R.; Ladd, Daniel J.; Kifor, Olga; Warren, Henry B.; Brown, Edward M.; Seidman, J.G.; Seidman, Christine E.
- Book ID
- 109918882
- Publisher
- Nature Publishing Group
- Year
- 1995
- Tongue
- English
- Weight
- 860 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1061-4036
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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
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