A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.

@article{Nagase2002AFO,
  title={A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.},
  author={Terumasa Nagase and Takehiko Murakami and Toshihiko Tsukada and Ryuichi Kitamura and Noriko Chikatsu and Hiroki Takeo and Nobuki Takata and Hiroko Yasuda and Seiji Fukumoto and Yuji Tanaka and Naokazu Nagata and Ken Yamaguchi and Takuhiko Akatsu and Michiko Yamamoto},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2002},
  volume={87 6},
  pages={2681-7}
}
To date about 20 activating mutations in the calcium-sensing receptor (CaR) gene have been identified to cause autosomal dominant hypocalcemia (ADH) or sporadic hypoparathyroidism. We report a novel activating mutation in the CaR gene in a Japanese family with ADH. The proband, a 15-yr-old boy, and 5 other patients in 3 generations were asymptomatic, except for the proband's grandmother who had a history of seizures. They showed mild hypocalcemia (1.68-1.98 mmol/liter) with normal urinary… CONTINUE READING
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