PMID- 7726161
OWN - NLM
STAT- MEDLINE
DCOM- 19950524
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 56
IP  - 5
DP  - 1995 May
TI  - Mutations in the human Ca(2+)-sensing-receptor gene that cause familial 
      hypocalciuric hypercalcemia.
PG  - 1075-9
AB  - We report five novel mutations in the human Ca(2+)-sensing-receptor gene that 
      cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe 
      hyperparathyroidism. Each gene defect is a missense mutation (228Arg-->Gln, 
      139Thr-->Met, 144Gly-->Glu, 63Arg-->Met, and 67Arg-->Cys) that encodes a 
      nonconservative amino acid alteration. These mutations are each predicted to be 
      in the Ca(2+)-sensing receptor's large extracellular domain. In three families 
      with FHH linked to the Ca(2+)-sensing-receptor gene on chromosome 3 and in 
      unrelated individuals probands with FHH, mutations were not detected in 
      protein-coding sequences. On the basis of these data and previous analyses, we 
      suggest that there are a wide range of mutations that cause FHH. Mutations that 
      perturb the structure and function of the extracellular or transmembrane domains 
      of the receptor and those that affect noncoding sequences of the 
      Ca(2+)-sensing-receptor gene can cause FHH.
FAU - Chou, Y H
AU  - Chou YH
AD  - Liver Research Unit, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
FAU - Pollak, M R
AU  - Pollak MR
FAU - Brandi, M L
AU  - Brandi ML
FAU - Toss, G
AU  - Toss G
FAU - Arnqvist, H
AU  - Arnqvist H
FAU - Atkinson, A B
AU  - Atkinson AB
FAU - Papapoulos, S E
AU  - Papapoulos SE
FAU - Marx, S
AU  - Marx S
FAU - Brown, E M
AU  - Brown EM
FAU - Seidman, J G
AU  - Seidman JG
AU  - et al.
LA  - eng
GR  - DK02138/DK/NIDDK NIH HHS/United States
GR  - DK44588/DK/NIDDK NIH HHS/United States
GR  - DK46422/DK/NIDDK NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Receptors, Cell Surface)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Calcium/metabolism/urine
MH  - Humans
MH  - Hypercalcemia/*genetics
MH  - *Point Mutation
MH  - Protein Conformation
MH  - Receptors, Calcium-Sensing
MH  - Receptors, Cell Surface/*genetics
PMC - PMC1801464
EDAT- 1995/05/01 00:00
MHDA- 1995/05/01 00:01
PMCR- 1995/11/01
CRDT- 1995/05/01 00:00
PHST- 1995/05/01 00:00 [pubmed]
PHST- 1995/05/01 00:01 [medline]
PHST- 1995/05/01 00:00 [entrez]
PHST- 1995/11/01 00:00 [pmc-release]
PST - ppublish
SO  - Am J Hum Genet. 1995 May;56(5):1075-9.