PMID- 28222409
OWN - NLM
STAT- MEDLINE
DCOM- 20170605
LR  - 20180817
IS  - 2520-8721 (Electronic)
IS  - 1109-3099 (Linking)
VI  - 15
IP  - 4
DP  - 2016 Oct
TI  - A novel mutation of the calcium-sensing receptor gene in a German subject with 
      familial hypocalciuric hypercalcemia and primary hyperparathyroidism.
PG  - 557-559
LID - 10.14310/horm.2002.1711 [doi]
AB  - 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. METHOD: 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. CONCLUSION: We report a novel 
      heterozygous missense inactivating mutation within the extracellular CaSR domain 
      in a German subject with FHH and histologically proven PHPT.
FAU - Papadakis, Marios
AU  - Papadakis M
AD  - Department of Endocrine Surgery, Helios Clinic, University Hospital 
      Witten-Herdecke, Wuppertal, Germany. marios_papadakis@yahoo.gr.
AD  - Department of Plastic and Hand Surgery, Helios Clinic, University Hospital 
      Witten-Herdecke, Heusnerstr. 40, 42283, Wuppertal, Germany. 
      marios_papadakis@yahoo.gr.
FAU - Meurer, Natalie
AU  - Meurer N
AD  - Department of Endocrine Surgery, Helios Clinic, University Hospital 
      Witten-Herdecke, Wuppertal, Germany.
FAU - Margariti, Theodora
AU  - Margariti T
AD  - Department of Endocrine Surgery, Helios Clinic, University Hospital 
      Witten-Herdecke, Wuppertal, Germany.
FAU - Meyer, Anke
AU  - Meyer A
AD  - Department of Endocrine Surgery, Helios Clinic, University Hospital 
      Witten-Herdecke, Wuppertal, Germany.
FAU - Weyerbrock, Norbert
AU  - Weyerbrock N
AD  - Department of Endocrine Surgery, Helios Clinic, University Hospital 
      Witten-Herdecke, Wuppertal, Germany.
FAU - Dotzenrath, Cornelia
AU  - Dotzenrath C
AD  - Department of Endocrine Surgery, Helios Clinic, University Hospital 
      Witten-Herdecke, Wuppertal, Germany.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Hormones (Athens)
JT  - Hormones (Athens, Greece)
JID - 101142469
RN  - 0 (CASR protein, human)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - Hypocalciuric hypercalcemia, familial, type 1
SB  - IM
MH  - Germany
MH  - Humans
MH  - Hypercalcemia/*congenital/genetics
MH  - Hyperparathyroidism, Primary/*genetics
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Receptors, Calcium-Sensing/*genetics
EDAT- 2017/02/22 06:00
MHDA- 2017/06/06 06:00
CRDT- 2017/02/22 06:00
PHST- 2015/11/20 00:00 [received]
PHST- 2016/12/12 00:00 [accepted]
PHST- 2017/02/22 06:00 [entrez]
PHST- 2017/02/22 06:00 [pubmed]
PHST- 2017/06/06 06:00 [medline]
AID - 10.14310/horm.2002.1711 [pii]
AID - 10.14310/horm.2002.1711 [doi]
PST - ppublish
SO  - Hormones (Athens). 2016 Oct;15(4):557-559. doi: 10.14310/horm.2002.1711.