A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing

Cardinal, J. W., Bergman, L., Hayward, N., Sweet, A., Warner, J., Marks, L., Learoyd, D., Dwight, T., Robinson, B., Epstein, M., Smith, M., Teh, B. T., Cameron, D. P. and Prins, J. B. (2005) A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing. Journal of Medical Genetics, 42 1: 69-74. doi:10.1136/jmg.2003.017319


Author Cardinal, J. W.
Bergman, L.
Hayward, N.
Sweet, A.
Warner, J.
Marks, L.
Learoyd, D.
Dwight, T.
Robinson, B.
Epstein, M.
Smith, M.
Teh, B. T.
Cameron, D. P.
Prins, J. B.
Title A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing
Journal name Journal of Medical Genetics   Check publisher's open access policy
ISSN 0022-2593
Publication date 2005-01-01
Sub-type Article (original research)
DOI 10.1136/jmg.2003.017319
Volume 42
Issue 1
Start page 69
End page 74
Total pages 6
Editor C. Eng
E. R. Maher
Place of publication United Kingdom
Publisher BMJ Publishing Group
Language eng
Subject C1
321004 Endocrinology
730105 Endocrine organs and diseases (incl. diabetes)
110306 Endocrinology
Abstract Introduction: Mutation testing for the MEN1 gene is a useful method to diagnose and predict individuals who either have or will develop multiple endocrine neoplasia type 1 ( MEN 1). Clinical selection criteria to identify patients who should be tested are needed, as mutation analysis is costly and time consuming. This study is a report of an Australian national mutation testing service for the MEN1 gene from referred patients with classical MEN 1 and various MEN 1- like conditions. Results: All 55 MEN1 mutation positive patients had a family history of hyperparathyroidism, had hyperparathyroidism with one other MEN1 related tumour, or had hyperparathyroidism with multiglandular hyperplasia at a young age. We found 42 separate mutations and six recurring mutations from unrelated families, and evidence for a founder effect in five families with the same mutation. Discussion: Our results indicate that mutations in genes other than MEN1 may cause familial isolated hyperparathyroidism and familial isolated pituitary tumours. Conclusions: We therefore suggest that routine germline MEN1 mutation testing of all cases of classical'' MEN1, familial hyperparathyroidism, and sporadic hyperparathyroidism with one other MEN1 related condition is justified by national testing services. We do not recommend routine sequencing of the promoter region between nucleotides 1234 and 1758 ( Genbank accession no. U93237) as we could not detect any sequence variations within this region in any familial or sporadic cases of MEN1 related conditions lacking a MEN1 mutation. We also suggest that testing be considered for patients < 30 years old with sporadic hyperparathyroidism and multigland hyperplasia
Keyword Genetics & Heredity
Multiple Endocrine Neoplasia
Familial Isolated Hyperparathyroidism
Tumor-suppressor Gene
Type-1 Men1
Sporadic Gastrinomas
Parathyroid Tumors
Somatic Mutations
Germ-line
Region
Identification
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID FT110100724
Institutional Status UQ

 
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Created: Wed, 15 Aug 2007, 15:37:28 EST