Article Text

Download PDFPDF
Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3–14
  1. J V Warner1,
  2. D R Nyholt2,
  3. F Busfield3,
  4. M Epstein4,
  5. J Burgess5,
  6. S Stranks6,
  7. P Hill7,
  8. D Perry-Keene8,
  9. D Learoyd9,
  10. B Robinson9,
  11. B T Teh10,
  12. J B Prins11,
  13. J W Cardinal12
  1. 1Centre for Diabetes and Endocrine Research, University of Queensland School of Medicine, Princess Alexandra Hospital, Ipswich Rd, Woolloongabba, Qld 4102, Australia
  2. 2The Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Qld 4029, Australia
  3. 3University of Queensland School of Medicine, The Prince Charles Hospital, Rode Rd, Chermside, Qld 4032, Australia
  4. 4John Hunter Hospital, Newcastle, NSW, Australia
  5. 5Department of Medicine, University of Tasmania, Hobart, Tas, Australia
  6. 6Ashford Medical Centre, Ashford, SA, Australia
  7. 7121 Wickham Terrace, Brisbane, Qld, Australia
  8. 8Department of Endocrinology, Royal Brisbane Hospital and University of Queensland School of Medicine, Qld, Australia
  9. 9Department of Endocrinology and Cancer Genetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, NSW, Australia
  10. 10Van Andel Research Institute, Grand Rapids, MI, USA
  11. 11Department of Diabetes and Endocrinology, University of Queensland, Princess Alexandra Hospital, Ipswich Rd, Woolloongabba, Qld 4102, Australia
  12. 12Department of Diabetes and Endocrinology, Princess Alexandra Hospital, Ipswich Rd, Woolloongabba, Qld 4102, Australia
  1. Correspondence to:
 Professor Johannes Bernhard Prins
 University of Queensland, Department of Diabetes and Endocrinology, Ground Floor E, Princess Alexandra Hospital, Ipswich Rd, Woolloongabba, Qld 4102, Australia; jprins{at}


Bachground: Familial isolated hyperparathyroidism (FIHP) is an autosomal dominantly inherited form of primary hyperparathyroidism. Although comprising only about 1% of cases of primary hyperparathyroidism, identification and functional analysis of a causative gene for FIHP is likely to advance our understanding of parathyroid physiology and pathophysiology.

Methods: A genome-wide screen of DNA from seven pedigrees with FIHP was undertaken in order to identify a region of genetic linkage with the disorder.

Results: Multipoint linkage analysis identified a region of suggestive linkage (LOD score 2.68) on chromosome 2. Fine mapping with the addition of three other families revealed significant linkage adjacent to D2S2368 (maximum multipoint LOD score 3.43). Recombination events defined a 1.7 Mb region of linkage between D2S2368 and D2S358 in nine pedigrees. Sequencing of the two most likely candidate genes in this region, however, did not identify a gene for FIHP.

Conclusions: We conclude that a causative gene for FIHP lies within this interval on chromosome 2. This is a major step towards eventual precise identification of a gene for FIHP, likely to be a key component in the genetic regulation of calcium homeostasis.

  • AGRF, Australian Genome Research Facility
  • FIHP, familial isolated hyperparathyroidism
  • HPT-JT, hyperparathyroidism-jaw tumour syndrome
  • MEN1, multiple endocrine neoplasia type 1
  • chromosome 2p13.3–14
  • familial isolated hyperparathyroidism
  • linkage

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • JW is a recipient of a National Health and Medical Research Council of Australia Medical Postgraduate Scholarship

  • Competing interests: none declared