A novelMEN1pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1

被引：1

作者：

Corsello, Andrea ^{[1
]}

Bruno, Carmine ^{[1
]}

Rizza, Roberta ^{[2
]}

Concolino, Paola ^{[2
]}

Papi, Giampaolo ^{[1
]}

Pontecorvi, Alfredo ^{[1
]}

Rindi, Guido ^{[3
,4
]}

Paragliola, Rosa Maria ^{[1
]}

机构：

[1] Univ Cattolica Sacro Cuore, Fdn Policlin Gemelli IRCCS, Endocrinol, Largo Gemelli 8, I-00168 Rome, Italy

[2] Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Biochem & Clin Biochem, Largo Gemelli 8, I-00168 Rome, Italy

[3] Univ Cattolica Sacro Cuore, Sect Anat Pathol, Dipartimento Sci Vita & Sanita Pubbl, Rome, Italy

[4] Fdn Policlin Univ A Gemelli IRCCS, Sect Anat Pathol, Dipartimento Sci Salute Donna Bambino & Sanita Pu, Roma Largo A Gemelli 8, I-00168 Rome, Italy

来源：

MOLECULAR BIOLOGY REPORTS | 2020年 / 47卷 / 09期

关键词：

MEN1; Menin; Primary hyperparathyroidism; Insulinoma; MEN1; GENE; MUTATIONS;

D O I：

10.1007/s11033-020-05730-x

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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. TheMEN1gene 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 ofMEN1gene.

引用

页码：7313 / 7316

页数：4

共 12 条

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