PMID- 10885494
OWN - NLM
STAT- MEDLINE
DCOM- 20001013
LR  - 20131121
IS  - 0036-5513 (Print)
IS  - 0036-5513 (Linking)
VI  - 60
IP  - 3
DP  - 2000 May
TI  - Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism 
      associated with mutations in the human Ca2+-sensing receptor gene in three Danish 
      families.
PG  - 221-7
AB  - We screened three unrelated Danish families with familial hypocalciuric 
      hypercalcemia (FHH) for mutations in the Ca2+-sensing receptor (CASR) gene by 
      polymerase chain reaction amplification and DNA sequencing of exons 2-7, which 
      include the entire coding region of the gene. In one family the affected 
      individuals have a T-->C mutation that changes the normal arginine at codon 220 
      to a tryptophan. In the other two FHH families, affected individuals have the 
      same A-->G mutation, leading to conversion of the normal glycine at codon 552 to 
      an arginine. These results confirm that FHH can be caused by non-conservative 
      missense mutations in the CASR gene leading to abnormal calcium homeostasis. Both 
      mutations are located in the amino-terminal extracellular domain of the receptor, 
      which contains the binding site for extracellular Ca2+, the CASR's principal 
      physiological agonist.
FAU - Schwarz, P
AU  - Schwarz P
AD  - Department of Clinical Biochemistry, Glostrup Hospital, University of Copenhagen, 
      Denmark.
FAU - Larsen, N E
AU  - Larsen NE
FAU - Lonborg Friis, I M
AU  - Lonborg Friis IM
FAU - Lillquist, K
AU  - Lillquist K
FAU - Brown, E M
AU  - Brown EM
FAU - Gammeltoft, S
AU  - Gammeltoft S
LA  - eng
GR  - DK48330/DK/NIDDK NIH HHS/United States
GR  - DK52005/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Scand J Clin Lab Invest
JT  - Scandinavian journal of clinical and laboratory investigation
JID - 0404375
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Receptors, Cell Surface)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Calcium/*urine
MH  - DNA Mutational Analysis
MH  - Female
MH  - Humans
MH  - Hypercalcemia/*genetics/*urine
MH  - Hyperparathyroidism/*genetics
MH  - Infant, Newborn
MH  - Male
MH  - *Mutation
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Receptors, Calcium-Sensing
MH  - Receptors, Cell Surface/*genetics
MH  - Sequence Analysis, DNA
EDAT- 2000/07/08 11:00
MHDA- 2000/10/21 11:01
CRDT- 2000/07/08 11:00
PHST- 2000/07/08 11:00 [pubmed]
PHST- 2000/10/21 11:01 [medline]
PHST- 2000/07/08 11:00 [entrez]
AID - 10.1080/003655100750044875 [doi]
PST - ppublish
SO  - Scand J Clin Lab Invest. 2000 May;60(3):221-7. doi: 10.1080/003655100750044875.