title: A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism.
abstract: OBJECTIVE
  The coexistence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene.
  
  
  METHODS
  We herein report a 60-year-old German patient who was referred for hypercalcemia and increased PTH levels found incidentally during normal routine blood tests.
  
  
  RESULTS
  The patient underwent surgical exploration and the diagnosis of PHPT was histologically confirmed. One week later, the follow-up blood tests revealed recurrent hypercalcemia, and the possibility of FHH was reconsidered. Genetic analysis was performed and revealed a novel heterozygous CaSR single missense mutation (Arg551Gly) within the extracellular CaSR domain.
  
  
  CONCLUSIONS
  We report a novel heterozygous missense inactivating mutation within the extracellular CaSR domain in a German subject with FHH and histologically proven PHPT.
authors.affiliation: Department of Endocrine Surgery, Helios Clinic, University Hospital Witten-Herdecke, Wuppertal, Germany. marios_papadakis@yahoo.gr.|Department of Plastic and Hand Surgery, Helios Clinic, University Hospital Witten-Herdecke, Heusnerstr. 40, 42283, Wuppertal, Germany. marios_papadakis@yahoo.gr.
authors.forename: Marios
authors.initials: M
authors.lastname: Papadakis
authors.affiliation: Department of Endocrine Surgery, Helios Clinic, University Hospital Witten-Herdecke, Wuppertal, Germany.
authors.forename: Natalie
authors.initials: N
authors.lastname: Meurer
authors.affiliation: Department of Endocrine Surgery, Helios Clinic, University Hospital Witten-Herdecke, Wuppertal, Germany.
authors.forename: Theodora
authors.initials: T
authors.lastname: Margariti
authors.affiliation: Department of Endocrine Surgery, Helios Clinic, University Hospital Witten-Herdecke, Wuppertal, Germany.
authors.forename: Anke
authors.initials: A
authors.lastname: Meyer
authors.affiliation: Department of Endocrine Surgery, Helios Clinic, University Hospital Witten-Herdecke, Wuppertal, Germany.
authors.forename: Norbert
authors.initials: N
authors.lastname: Weyerbrock
authors.affiliation: Department of Endocrine Surgery, Helios Clinic, University Hospital Witten-Herdecke, Wuppertal, Germany.
authors.forename: Cornelia
authors.initials: C
authors.lastname: Dotzenrath
mesh_terms: D005858:Germany; D006801:Humans; D006934:Hypercalcemia / Q000151:congenital* / Q000235:genetics; D049950:Hyperparathyroidism, Primary / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D044169:Receptors, Calcium-Sensing / Q000235:genetics*
chemical_list: C095550:CASR protein, human; D044169:Receptors, Calcium-Sensing