PMID- 29039523
OWN - NLM
STAT- MEDLINE
DCOM- 20180626
LR  - 20180716
IS  - 1791-3004 (Electronic)
IS  - 1791-2997 (Linking)
VI  - 16
IP  - 6
DP  - 2017 Dec
TI  - Analysis of MEN1 c.482G>A (p.Gly161Asp) mutation in a pedigree with familial 
      multiple endocrine neoplasia type 1.
PG  - 8973-8976
LID - 10.3892/mmr.2017.7749 [doi]
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder 
      characterized by the development of neuroendocrine tumors, which in turn are 
      caused by mutations in the MEN1 gene. In the present study, a case of a 
      46‑year‑old woman who was clinically diagnosed with MEN1 based on the presence of 
      prolactinoma and bilateral parathyroid adenoma was reported. The patient's serum 
      prolactin (PRL) levels were successfully controlled via bromocriptine therapy, 
      and the serum levels of calcium and intact parathyroid hormone (PTH) reduced one 
      day following parathyroidectomy. Genetic testing revealed a missense mutation 
      c.482G>A (p.Gly161Asp) in exon 3 of the MEN1 gene, and it led to the 
      identification of two carriers in the pedigree (patient's elder sister and 
      brother). Both of the carriers revealed to have high blood calcium, PTH and PRL. 
      The mutation identified in this pedigree has never been reported in China. The 
      sequence alignments and tertiary structure of menin protein were made by 
      Polyphen2, SNPs3D, and SIFT, which were used to predict the function of mutant 
      menin. Since the mutant menin may interfere with the menin‑JunD or menin‑Smad3 
      interactions, further investigations are necessary to explore the function of 
      mutant protein. In view of that, identification of mutations and longtime 
      follow‑up are important for patients with a pedigree clearly indicating MEN1.
FAU - Luo, Yuanyuan
AU  - Luo Y
AD  - Department of Endocrinology and Metabolism, Genetic and Prenatal Diagnosis 
      Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 
      450052, P.R. China.
FAU - Sun, Yongxiang
AU  - Sun Y
AD  - Department of Endocrinology and Geriatrics, The Medical Group of Zhengzhou First 
      People's Hospital, Zhengzhou, Henan 450000, P.R. China.
FAU - Zhu, Xiaofan
AU  - Zhu X
AD  - Department of Endocrinology and Metabolism, Genetic and Prenatal Diagnosis 
      Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 
      450052, P.R. China.
FAU - Li, Xialian
AU  - Li X
AD  - Department of Endocrinology and Metabolism, Genetic and Prenatal Diagnosis 
      Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 
      450052, P.R. China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20171010
PL  - Greece
TA  - Mol Med Rep
JT  - Molecular medicine reports
JID - 101475259
RN  - 0 (Biomarkers)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - *Alleles
MH  - *Amino Acid Substitution
MH  - Biomarkers
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/*genetics/metabolism
MH  - *Mutation
MH  - Pedigree
MH  - Phenotype
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2017/10/19 06:00
MHDA- 2018/06/27 06:00
CRDT- 2017/10/18 06:00
PHST- 2017/03/31 00:00 [received]
PHST- 2017/09/25 00:00 [accepted]
PHST- 2017/10/19 06:00 [pubmed]
PHST- 2018/06/27 06:00 [medline]
PHST- 2017/10/18 06:00 [entrez]
AID - 10.3892/mmr.2017.7749 [doi]
PST - ppublish
SO  - Mol Med Rep. 2017 Dec;16(6):8973-8976. doi: 10.3892/mmr.2017.7749. Epub 2017 Oct 
      10.