Rapid Mutation Screening for HRPT2 and MEN1 Mutations Associated with Familial and Sporadic Primary Hyperparathyroidism

Howell, V. M., Cardinal, J. W., Richardson, A. L., Grimm, O., Robinson, B. G. and Marsh, D. J. (2006) Rapid Mutation Screening for HRPT2 and MEN1 Mutations Associated with Familial and Sporadic Primary Hyperparathyroidism. Journal of Molecular Diagnostics, 8 5: 559-566. doi:10.2353/jmoldx.2006.060015


Author Howell, V. M.
Cardinal, J. W.
Richardson, A. L.
Grimm, O.
Robinson, B. G.
Marsh, D. J.
Title Rapid Mutation Screening for HRPT2 and MEN1 Mutations Associated with Familial and Sporadic Primary Hyperparathyroidism
Journal name Journal of Molecular Diagnostics   Check publisher's open access policy
ISSN 1525-1578
Publication date 2006-01-01
Sub-type Article (original research)
DOI 10.2353/jmoldx.2006.060015
Volume 8
Issue 5
Start page 559
End page 566
Total pages 8
Place of publication Bethesda MD
Publisher American Society for Investigative Pathology and the Association of Molecular Pathology
Language eng
Subject 110306 Endocrinology
Abstract Familial hyperparathyroidism, a disease of the parathyroid glands, may occur in conjunction with pituitary and pancreatic tumors (multiple endocrine neoplasia type I), kidney and bone tumors (hyperparathyroidism jaw tumor syndrome), or alone (familial isolated hyperparathyroidism). This study describes the development and validation of rapid scanning for mutations in two tumor suppressor genes linked to familial hyperparathyroidism—MEN1 and HRPT2. Denaturing high-performance liquid chromatography mutation scanning for MEN1 was performed using a set of 10 amplicons covering the nine coding exons and flanking intronic regions and for HRPT2 using a set of three amplicons for exons 1, 2, and 7 and flanking intronic regions, in which 80% of the mutations identified to date are located. All 52 MEN1 mutations or polymorphisms, 46 known and six unknown, were successfully detected. Mutation detection in exon 9 was not confounded by the presence of the common polymorphism D418D. In addition, all 10 HRPT2 mutations were successfully detected, and a two-step approach was able to distinguish IVS2 common polymorphisms from exon 2 mutations. The development of rapid denaturing high performance liquid chromatography mutation scanning of MEN1 and HRPT2 facilitates a molecular diagnosis of the associated familial syndromes for both clinically affected and at-risk family members.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Human Movement and Nutrition Sciences Publications
 
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Created: Sat, 07 Mar 2009, 01:33:31 EST by Ms Julie Schofield on behalf of School of Human Movement and Nutrition Sciences