CASR gene activating mutations in two families with autosomal dominant hypocalcemia.

@article{Guarnieri2012CASRGA,
  title={CASR gene activating mutations in two families with autosomal dominant hypocalcemia.},
  author={Vito Guarnieri and Angela Valentina D'Elia and Filomena Baorda and Valerio Pazienza and Giorgia Benegiamo and Pietro Stanziale and Massimiliano Copetti and Claudia Battista and Franco Grimaldi and Giuseppe Damante and Fabio Pellegrini and Leonardo D'agruma and Leopoldo Zelante and Massimo Carella and Alfredo Scillitani},
  journal={Molecular genetics and metabolism},
  year={2012},
  volume={107 3},
  pages={548-52}
}
BACKGROUND Autosomal dominant hypocalcemia (ADH) is an endocrine disorder caused by activating mutations of the calcium-sensing receptor (CASR) gene which plays a major role in maintaining calcium homeostasis. Biochemical features of ADH are hypocalcemia and hypercalciuria with inappropriately low levels of parathyroid hormone (PTH). We report on two four-generation families affected by ADH. AIM To identify mutations of CASR gene in subjects affected by familial idiopathic hypoparathyroidism… CONTINUE READING