PMID- 24302194
OWN - NLM
STAT- MEDLINE
DCOM- 20140527
LR  - 20131204
IS  - 1128-3602 (Print)
IS  - 1128-3602 (Linking)
VI  - 17
IP  - 22
DP  - 2013 Nov
TI  - A novel germline mutation of the MEN1 gene caused multiple endocrine neoplasia 
      type 1 in a Chinese young man and 1 year follow-up.
PG  - 3111-6
LID - 5661 [pii]
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant 
      cancer predisposition syndrome which manifests a variety of endocrine and 
      non-endocrine neoplasms and lesions. Because of its complexity in clinical 
      manifestations, it is always difficult to set up the diagnosis in the early stage 
      of the disease. AIM: Using genetic diagnosis to identify and describe the process 
      of the disease from the very beginning and followed the treatment result in 1 
      year. MATERIALS AND METHODS: In this assay, a Chinese young man aged 31 with 
      parathyroid hyperplasia, suspected gastrinoma and an enlarged pituitary with 
      elevated level of prolactin (PRL) and growth hormone (GH) was admitted to our 
      Department ward. We performed genetic analysis in his family and described a new 
      nonsense mutation at codon 308 in exon 6 of the MEN1 gene, where a cytosine 
      residue was exchanged for guanine residue (TCA > TGA), and a termination condon 
      (S308X) occurred. During the 1 year follow up, typical manifestations emerged in 
      this kindred and further confirmed the diagnosis of familial MEN 1. CONCLUSIONS: 
      We presented a case of MEN 1 from its early stage and followed the progression. 
      Meanwhile, the mutation in this kindred has not been reported and our finding can 
      contribute to better understanding about this disease.
FAU - Liu, W
AU  - Liu W
AD  - Department of Endocrinology and Metabolism, Peking University People's Hospital, 
      Beijing, China. xueyaohan@sina.com  
FAU - Han, X
AU  - Han X
FAU - Hu, Z
AU  - Hu Z
FAU - Zhang, X
AU  - Zhang X
FAU - Chen, Y
AU  - Chen Y
FAU - Zhao, Y
AU  - Zhao Y
FAU - Ji, L
AU  - Ji L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Italy
TA  - Eur Rev Med Pharmacol Sci
JT  - European review for medical and pharmacological sciences
JID - 9717360
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 12629-01-5 (Human Growth Hormone)
RN  - 9002-62-4 (Prolactin)
SB  - IM
MH  - Adult
MH  - Follow-Up Studies
MH  - *Germ-Line Mutation
MH  - Human Growth Hormone/blood
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/blood/*genetics
MH  - Pedigree
MH  - Prolactin/blood
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2013/12/05 06:00
MHDA- 2014/05/28 06:00
CRDT- 2013/12/05 06:00
PHST- 2013/12/05 06:00 [entrez]
PHST- 2013/12/05 06:00 [pubmed]
PHST- 2014/05/28 06:00 [medline]
AID - 5661 [pii]
PST - ppublish
SO  - Eur Rev Med Pharmacol Sci. 2013 Nov;17(22):3111-6.