J Med Genet 2001;38:185-189 ( March )

Letters to the editor

Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland

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EDITORMultiple endocrine neoplasia type 1 (MEN 1, OMIM 131100) is transmitted as an autosomal dominant trait with an equal sex distribution and close to full penetrance. Hyperparathyroidism occurs in over 90% of the cases and is invariably associated with multiglandular disease. In addition, the patients may develop tumours of the endocrine pancreas, the anterior pituitary, and the adrenal cortex, as well as lipomas and carcinoids.¹ The MEN1 tumour suppressor gene at 11q13 was cloned by positional cloning and the protein, menin, has been found to bind specifically to JunD leading to inhibition of JunD activated transcription.^2-5 Following the initial description of the disease gene, over 200 MEN1 germline mutations scattered throughout the entire gene have been reported. The majority of these mutations are unique and no clear cut genotype-phenotype correlation has been established so far.^3 4 6-13 To date, only a few reports of a founder effect in MEN 1 families have been . . . [Full text of this article]

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