PMID- 11762699
OWN - NLM
STAT- MEDLINE
DCOM- 20020520
LR  - 20181113
IS  - 1355-008X (Print)
IS  - 1355-008X (Linking)
VI  - 15
IP  - 3
DP  - 2001 Aug
TI  - A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric 
      hypercalcemia.
PG  - 277-82
AB  - Missense mutations in the calcium-sensing receptor (CaSR) gene have previously 
      been identified in patients with familial hypocalciuric hypercalcemia (FHH) and 
      neonatal severe hyperparathyroidism. We identified a newborn with hypercalcemia 
      in our hospital by mass screening. The family members were studied, and we found 
      a novel CaSR missense mutation with polymerase chain reaction single-strand 
      conformational polymorphism analysis. The mother, grandmother, and aunt of the 
      baby all had FHH. A heterozygous missense mutation in exon 6 that substitutes a 
      glutamic acid for the glycine at codon 557 (Gly557Glu), which corresponds to the 
      extracellular domain of CaSR, was identified and shown to cosegregate with the 
      disease. Identification of the mutation responsible for the FHH phenotype in this 
      family may facilitate rapid testing of individuals at risk for FHH.
FAU - Nakayama, T
AU  - Nakayama T
AD  - Division of Receptor Biology, Advanced Medical Research Center, Nihon University 
      School of Medicine, Tokyo, Japan. tnakayam@med.nihon-u.ac.jp
FAU - Minato, M
AU  - Minato M
FAU - Nakagawa, M
AU  - Nakagawa M
FAU - Soma, M
AU  - Soma M
FAU - Tobe, H
AU  - Tobe H
FAU - Aoi, N
AU  - Aoi N
FAU - Kosuge, K
AU  - Kosuge K
FAU - Sato, M
AU  - Sato M
FAU - Ozawa, Y
AU  - Ozawa Y
FAU - Kanmatsuse, K
AU  - Kanmatsuse K
FAU - Kokubun, S
AU  - Kokubun S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Endocrine
JT  - Endocrine
JID - 9434444
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Receptors, Cell Surface)
SB  - IM
MH  - Adult
MH  - Exons/genetics
MH  - Humans
MH  - Hypercalcemia/blood/*genetics/urine
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Middle Aged
MH  - Mutation/*genetics
MH  - Polymorphism, Restriction Fragment Length
MH  - Polymorphism, Single-Stranded Conformational
MH  - Receptors, Calcium-Sensing
MH  - Receptors, Cell Surface/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 2002/01/05 10:00
MHDA- 2002/05/22 10:01
CRDT- 2002/01/05 10:00
PHST- 2002/01/05 10:00 [pubmed]
PHST- 2002/05/22 10:01 [medline]
PHST- 2002/01/05 10:00 [entrez]
AID - ENDO:15:3:277 [pii]
AID - 10.1385/ENDO:15:3:277 [doi]
PST - ppublish
SO  - Endocrine. 2001 Aug;15(3):277-82. doi: 10.1385/ENDO:15:3:277.