PMID- 14985373
OWN - NLM
STAT- MEDLINE
DCOM- 20040615
LR  - 20230411
IS  - 1468-6244 (Electronic)
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 41
IP  - 3
DP  - 2004 Mar
TI  - Genetic testing in familial isolated hyperparathyroidism: unexpected results and 
      their implications.
PG  - 155-60
AB  - Familial hyperparathyroidism is not uncommon in clinical endocrine practice. It 
      encompasses a spectrum of disorders including multiple endocrine neoplasia types 
      1 (MEN1) and 2A, hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial 
      hypocalciuric hypercalcaemia (FHH), and familial isolated hyperparathyroidism 
      (FIHP). Distinguishing among the five syndromes is often difficult but has 
      profound implications for the management of patient and family. The availability 
      of specific genetic testing for four of the syndromes has improved diagnostic 
      accuracy and simplified family monitoring in many cases but its current cost and 
      limited accessibility require rationalisation of its use. No gene has yet been 
      associated exclusively with FIHP. FIHP phenotypes have been associated with 
      mutant MEN1 and calcium-sensing receptor (CASR) genotypes and, very recently, 
      with mutation in the newly identified HRPT2 gene. The relative proportions of 
      these are not yet clear. We report results of MEN1, CASR, and HRPT2 genotyping of 
      22 unrelated subjects with FIHP phenotypes. We found 5 (23%) with MEN1 mutations, 
      four (18%) with CASR mutations, and none with an HRPT2 mutation. All those with 
      mutations had multiglandular hyperparathyroidism. Of the subjects with CASR 
      mutations, none were of the typical FHH phenotype. These findings strongly favour 
      a recommendation for MEN1 and CASR genotyping of patients with multiglandular 
      FIHP, irrespective of urinary calcium excretion. However, it appears that HRPT2 
      genotyping should be reserved for cases in which other features of the HPT-JT 
      phenotype have occurred in the kindred. Also apparent is the need for further 
      investigation to identify additional genes associated with FIHP.
FAU - Warner, J
AU  - Warner J
AD  - Department of Diabetes and Endocrinology, Princess Alexandra Hospital, Ipswich 
      Rd, Woolloongabba 4102, Qld, Australia.
FAU - Epstein, M
AU  - Epstein M
FAU - Sweet, A
AU  - Sweet A
FAU - Singh, D
AU  - Singh D
FAU - Burgess, J
AU  - Burgess J
FAU - Stranks, S
AU  - Stranks S
FAU - Hill, P
AU  - Hill P
FAU - Perry-Keene, D
AU  - Perry-Keene D
FAU - Learoyd, D
AU  - Learoyd D
FAU - Robinson, B
AU  - Robinson B
FAU - Birdsey, P
AU  - Birdsey P
FAU - Mackenzie, E
AU  - Mackenzie E
FAU - Teh, B T
AU  - Teh BT
FAU - Prins, J B
AU  - Prins JB
FAU - Cardinal, J
AU  - Cardinal J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - 0 (CASR protein, human)
RN  - 0 (CDC73 protein, human)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Tumor Suppressor Proteins)
SB  - IM
MH  - Australia
MH  - DNA Mutational Analysis
MH  - *Genetic Testing
MH  - Genotype
MH  - Humans
MH  - Hyperparathyroidism/diagnosis/*genetics
MH  - Mutation/*genetics
MH  - Phenotype
MH  - Polymorphism, Genetic/genetics
MH  - Proteins/*genetics
MH  - Proto-Oncogene Proteins/*genetics
MH  - Receptors, Calcium-Sensing/*genetics
MH  - Tumor Suppressor Proteins
PMC - PMC1735699
EDAT- 2004/02/27 05:00
MHDA- 2004/06/16 05:00
PMCR- 2007/03/01
CRDT- 2004/02/27 05:00
PHST- 2004/02/27 05:00 [pubmed]
PHST- 2004/06/16 05:00 [medline]
PHST- 2004/02/27 05:00 [entrez]
PHST- 2007/03/01 00:00 [pmc-release]
AID - 10.1136/jmg.2003.016725 [doi]
PST - ppublish
SO  - J Med Genet. 2004 Mar;41(3):155-60. doi: 10.1136/jmg.2003.016725.