A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1

Andrea Corsello, Carmine Bruno, Roberta Rizza, Paola Concolino, Giampaolo Papi, Alfredo Pontecorvi, Guido Rindi, Rosa Maria Paragliola

Research output: Contribution to journalArticlepeer-review

Abstract

The multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome characterized by the predisposition to developing multiple endocrine and non-endocrine tumors, typically characterized by the association between parathyroid gland hyperplasia or tumors, gastroenteropancreatic tumors and pituitary adenomas. The MEN1 gene is located on the long arm of chromosome 11 (11q13) and it encodes for the protein “menin”. We here reported the case of a MEN1-patient, affected by primary hyperparathyroidism, insulinoma, pituitary non-hyperfunctioning adenoma and bilateral adrenal masses, carrying a novel heterozygous pathogenic variant (c.1252_1254delGACinsAT), located in exon 9 of MEN1 gene.

Original languageEnglish
Pages (from-to)7313-7316
Number of pages4
JournalMolecular Biology Reports
Volume47
Issue number9
DOIs
Publication statusPublished - Sep 1 2020

Keywords

  • Insulinoma
  • MEN1
  • Menin
  • Primary hyperparathyroidism

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

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