ArticleJournal of endocrinological investigation2004
A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple endocrine tumors.
Article in Journal of endocrinological investigation, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed, 4 citations in OpenAlex.
- Is Routine Screening of Young Asymptomatic MEN1 Patients Necessary?World journal of surgery · 2017Article
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8 authors at 4 institutions in 2 countries.
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Abstract
Germline mutations of the MEN 1 gene are responsible for multiple endocrine neoplasia type 1 (MEN 1), a dominantly inherited cancer syndrome characterized by tumors of the parathyroids, gastro-intestinal endocrine tissue, anterior pituitary and other endocrine tissues. We report on a 55-yr old woman, presenting with active acromegaly (due to GH-secreting microadenoma), associated to bilateral adrenal adenomatosis and Hürthle-cell thyroid neoplasia. No evidence of hyperparathyroidism or gastrin-secreting tumor was found. Peripheral blood genomic DNA was extracted, amplified by PCR, purified and analyzed by direct sequencing. The analysis revealed a heterozygous mutation in exon 4 of the MEN 1 gene: a G to A missense mutation at codon 229 (CGC-->CAC), which changes arginine to histidine. This mutation causes loss of the Hhal restriction site and can thus be employed for a rapid familiar screening. This case represents a newly recognized germline mutation of the MEN 1 gene.
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