PMID- 7717399
OWN - NLM
STAT- MEDLINE
DCOM- 19950515
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 56
IP  - 4
DP  - 1995 Apr
TI  - Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial 
      hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
PG  - 880-6
AB  - Missense mutations in the calcium-sensing receptor (CaR) gene have previously 
      been identified in patients with familial hypocalciuric hypercalcemia (FHH) and 
      neonatal severe hyperparathyroidism (NSHPT). We studied family members of a Nova 
      Scotian deme expressing both FHH and NSHPT and found, by PCR amplification of CaR 
      gene exons, that FHH individuals were heterozygous and NSHPT individuals were 
      homozygous for an abnormally large exon 7. This is due to an insertion at codon 
      877 of an Alu-repetitive element of the predicted-variant/human-specific-1 
      subfamily. It is in the opposite orientation to the CaR gene and contains an 
      exceptionally long poly(A) tract. Stop signals are introduced in all reading 
      frames within the Alu sequence, leading to a predicted shortened mutant CaR 
      protein. The loss of the majority of the CaR carboxyl-terminal intracellular 
      domain would dramatically impair its signal transduction capability. 
      Identification of the specific mutation responsible for the FHH/NSHPT phenotype 
      in this community will allow rapid testing of at-risk individuals.
FAU - Janicic, N
AU  - Janicic N
AD  - Department of Medicine, McGill University, Montreal, Canada.
FAU - Pausova, Z
AU  - Pausova Z
FAU - Cole, D E
AU  - Cole DE
FAU - Hendy, G N
AU  - Hendy GN
LA  - eng
SI  - GENBANK/S77605
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (DNA Transposable Elements)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Receptors, Cell Surface)
SB  - IM
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - DNA Transposable Elements
MH  - Exons
MH  - Female
MH  - Haplotypes
MH  - Humans
MH  - Hypercalcemia/*genetics
MH  - Hyperparathyroidism/*genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Receptors, Calcium-Sensing
MH  - Receptors, Cell Surface/*genetics
MH  - *Repetitive Sequences, Nucleic Acid
MH  - Sequence Analysis, DNA
PMC - PMC1801194
EDAT- 1995/04/01 00:00
MHDA- 1995/04/01 00:01
PMCR- 1995/10/01
CRDT- 1995/04/01 00:00
PHST- 1995/04/01 00:00 [pubmed]
PHST- 1995/04/01 00:01 [medline]
PHST- 1995/04/01 00:00 [entrez]
PHST- 1995/10/01 00:00 [pmc-release]
PST - ppublish
SO  - Am J Hum Genet. 1995 Apr;56(4):880-6.