PMID- 26424307
OWN - NLM
STAT- MEDLINE
DCOM- 20160704
LR  - 20181202
IS  - 1349-7235 (Electronic)
IS  - 0918-2918 (Linking)
VI  - 54
IP  - 19
DP  - 2015
TI  - A Novel Missense Mutation of the MEN1 Gene in a Patient with Multiple Endocrine 
      Neoplasia Type 1 with Glucagonoma and Obesity.
PG  - 2475-81
LID - 10.2169/internalmedicine.54.4886 [doi]
AB  - A 35-year-old obese diabetic man presented with recurrent primary 
      hyperparathyroidism during a three-year outpatient follow-up. He was clinically 
      diagnosed with multiple endocrine neoplasia type 1 (MEN1) due to the presence of 
      a pituitary adenoma and multiple glucagonomas. The glucagonomas may have affected 
      his glycemic control. However, he did not demonstrate weight loss, suggesting 
      that the patient's obesity could have obscured the early diagnosis of a 
      glucagonoma. Genetic testing revealed a novel missense mutation at codon 561 in 
      exon 10, resulting in an amino acid substitution from methionine to arginine 
      (M561R) in the MEN1 gene. This mutation appeared to be responsible for the MEN1 
      pathogenicity.
FAU - Murakami, Takaaki
AU  - Murakami T
AD  - Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan.
FAU - Usui, Takeshi
AU  - Usui T
FAU - Nakajima, Akio
AU  - Nakajima A
FAU - Mochida, Yuki
AU  - Mochida Y
FAU - Saito, Sumio
AU  - Saito S
FAU - Nambu, Takuo
AU  - Nambu T
FAU - Kato, Tomoko
AU  - Kato T
FAU - Matsuda, Yuki
AU  - Matsuda Y
FAU - Yonemitsu, Shin
AU  - Yonemitsu S
FAU - Muro, Seiji
AU  - Muro S
FAU - Oki, Shogo
AU  - Oki S
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20151001
PL  - Japan
TA  - Intern Med
JT  - Internal medicine (Tokyo, Japan)
JID - 9204241
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Amino Acid Substitution
MH  - DNA Mutational Analysis
MH  - Diabetes Mellitus, Type 2
MH  - Genetic Testing
MH  - Glucagonoma/*diagnosis/genetics/surgery
MH  - Humans
MH  - Hyperparathyroidism, Primary/*diagnosis/etiology/genetics
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/genetics/surgery
MH  - Mutation, Missense/*genetics
MH  - Obesity/complications
MH  - Pancreatic Neoplasms/*diagnosis/genetics/surgery
MH  - Proto-Oncogene Proteins
EDAT- 2015/10/02 06:00
MHDA- 2016/07/05 06:00
CRDT- 2015/10/02 06:00
PHST- 2015/10/02 06:00 [entrez]
PHST- 2015/10/02 06:00 [pubmed]
PHST- 2016/07/05 06:00 [medline]
AID - 10.2169/internalmedicine.54.4886 [doi]
PST - ppublish
SO  - Intern Med. 2015;54(19):2475-81. doi: 10.2169/internalmedicine.54.4886. Epub 2015 
      Oct 1.