PMID- 33173995
OWN - NLM
STAT- MEDLINE
DCOM- 20210510
LR  - 20210510
IS  - 1791-3004 (Electronic)
IS  - 1791-2997 (Linking)
VI  - 22
IP  - 6
DP  - 2020 Dec
TI  - Identification of a novel frameshift c.930delG MEN1 germline mutation 
      (p.Glu273LysfsTer7) in a sporadic case of multiple endocrine neoplasia type 1: A 
      case report.
PG  - 5423-5427
LID - 10.3892/mmr.2020.11596 [doi]
AB  - Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic disorder that is 
      inherited in an autosomal dominant manner. The characteristics of the disease are 
      the combined occurrence of tumors in glands of the endocrine system, such as the 
      parathyroid glands, pituitary gland and endocrine pancreas. Germline mutations in 
      the MEN1 gene are associated with the occurrence of MEN1 and genetic testing for 
      this gene is generally used as a basis for diagnosis. In this paper, a case of 
      MEN1 in a middle‑aged Japanese woman is reported. Direct sequencing analysis of 
      the patient's DNA was performed and it revealed a MEN1 gene heterozygous germline 
      (NM_130799.2:c.930delG) mutation in exon 5. This deletion/frameshift mutation 
      produced a stop codon in the downstream sequence (NP_570711.1:p.Glu273LysfsTer7). 
      To the best of our knowledge, this is the first report describing the 
      NM_130799.2:c.930delG mutation as the basis for MEN1.
FAU - Naruse, Hiromu
AU  - Naruse H
AD  - Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon 
      University School of Medicine, Tokyo 173‑8610, Japan.
FAU - Umemura, Hiroshi
AU  - Umemura H
AD  - Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon 
      University School of Medicine, Tokyo 173‑8610, Japan.
FAU - Nakayama, Tomohiro
AU  - Nakayama T
AD  - Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon 
      University School of Medicine, Tokyo 173‑8610, Japan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20201014
PL  - Greece
TA  - Mol Med Rep
JT  - Molecular medicine reports
JID - 101475259
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - DNA/genetics
MH  - Female
MH  - Frameshift Mutation/genetics
MH  - Germ-Line Mutation/genetics
MH  - Heterozygote
MH  - Humans
MH  - Japan
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pedigree
MH  - Proto-Oncogene Proteins/*genetics/*metabolism
EDAT- 2020/11/12 06:00
MHDA- 2021/05/11 06:00
CRDT- 2020/11/11 06:00
PHST- 2019/07/29 00:00 [received]
PHST- 2020/03/05 00:00 [accepted]
PHST- 2020/11/12 06:00 [pubmed]
PHST- 2021/05/11 06:00 [medline]
PHST- 2020/11/11 06:00 [entrez]
AID - 10.3892/mmr.2020.11596 [doi]
PST - ppublish
SO  - Mol Med Rep. 2020 Dec;22(6):5423-5427. doi: 10.3892/mmr.2020.11596. Epub 2020 Oct 
      14.