PMID- 32808116
OWN - NLM
STAT- MEDLINE
DCOM- 20210518
LR  - 20210518
IS  - 1573-4978 (Electronic)
IS  - 0301-4851 (Print)
IS  - 0301-4851 (Linking)
VI  - 47
IP  - 9
DP  - 2020 Sep
TI  - A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine 
      neoplasia type 1.
PG  - 7313-7316
LID - 10.1007/s11033-020-05730-x [doi]
AB  - 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.
FAU - Corsello, Andrea
AU  - Corsello A
AD  - Endocrinology, Universita Cattolica del Sacro Cuore, Fondazione Policlinico 
      "Gemelli" IRCCS, Largo Gemelli 8, 00168, Rome, Italy.
FAU - Bruno, Carmine
AU  - Bruno C
AD  - Endocrinology, Universita Cattolica del Sacro Cuore, Fondazione Policlinico 
      "Gemelli" IRCCS, Largo Gemelli 8, 00168, Rome, Italy.
FAU - Rizza, Roberta
AU  - Rizza R
AD  - Institute of Biochemistry and Clinical Biochemistry, Universita Cattolica del 
      Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma Largo 
      Gemelli 8, 00168, Rome, Italy.
FAU - Concolino, Paola
AU  - Concolino P
AD  - Institute of Biochemistry and Clinical Biochemistry, Universita Cattolica del 
      Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma Largo 
      Gemelli 8, 00168, Rome, Italy.
FAU - Papi, Giampaolo
AU  - Papi G
AD  - Endocrinology, Universita Cattolica del Sacro Cuore, Fondazione Policlinico 
      "Gemelli" IRCCS, Largo Gemelli 8, 00168, Rome, Italy.
FAU - Pontecorvi, Alfredo
AU  - Pontecorvi A
AD  - Endocrinology, Universita Cattolica del Sacro Cuore, Fondazione Policlinico 
      "Gemelli" IRCCS, Largo Gemelli 8, 00168, Rome, Italy.
FAU - Rindi, Guido
AU  - Rindi G
AD  - Section of Anatomic Pathology, Dipartimento di Scienze della Vita e di Sanita 
      Pubblica, Universita Cattolica del Sacro Cuore, Rome, Italy.
AD  - Section of Anatomic Pathology, Dipartimento di Scienze della Salute della Donna, 
      del Bambino e di Sanita Pubblica, Fondazione Policlinico Universitario A. Gemelli 
      IRCCS, Roma Largo A. Gemelli 8, 00168, Rome, Italy.
FAU - Paragliola, Rosa Maria
AU  - Paragliola RM
AD  - Endocrinology, Universita Cattolica del Sacro Cuore, Fondazione Policlinico 
      "Gemelli" IRCCS, Largo Gemelli 8, 00168, Rome, Italy. 
      rosamariaparagliola@gmail.com.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20200817
PL  - Netherlands
TA  - Mol Biol Rep
JT  - Molecular biology reports
JID - 0403234
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - *Base Sequence
MH  - *Exons
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Proto-Oncogene Proteins/*genetics
MH  - *Sequence Deletion
PMC - PMC7430936
OTO - NOTNLM
OT  - Insulinoma
OT  - MEN1
OT  - Menin
OT  - Primary hyperparathyroidism
COIS- All authors declare that they have no conflict of interest.
EDAT- 2020/08/19 06:00
MHDA- 2021/05/19 06:00
PMCR- 2020/08/17
CRDT- 2020/08/19 06:00
PHST- 2020/04/04 00:00 [received]
PHST- 2020/08/13 00:00 [accepted]
PHST- 2020/08/04 00:00 [revised]
PHST- 2020/08/19 06:00 [pubmed]
PHST- 2021/05/19 06:00 [medline]
PHST- 2020/08/19 06:00 [entrez]
PHST- 2020/08/17 00:00 [pmc-release]
AID - 10.1007/s11033-020-05730-x [pii]
AID - 5730 [pii]
AID - 10.1007/s11033-020-05730-x [doi]
PST - ppublish
SO  - Mol Biol Rep. 2020 Sep;47(9):7313-7316. doi: 10.1007/s11033-020-05730-x. Epub 
      2020 Aug 17.