PMID- 20367983
OWN - NLM
STAT- MEDLINE
DCOM- 20100629
LR  - 20100914
IS  - 2542-5641 (Electronic)
IS  - 0366-6999 (Linking)
VI  - 123
IP  - 5
DP  - 2010 Mar 5
TI  - Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1.
PG  - 569-73
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant 
      cancer syndrome which is caused by germline mutations of the tumor suppressor 
      gene MEN1. This study aimed to identify mutations in a Chinese pedigree with 
      MEN1. METHODS: A large Chinese family with MEN1 was collected. All of the coded 
      regions and their adjacent sequences of the MEN1 gene were amplified and 
      sequenced. RESULTS: In this family, a heterozygous cytosine insertion in exon 10 
      (c.1546_1547insC) inducing a frame shift mutation of MEN1 was found in the 
      proband and the other two suffering members of his family. This mutation was 
      linked to a novel single nucleotide polymorphism (SNP) in intron 3 (IVS3 + 18C > 
      T). CONCLUSIONS: The mutation in exon 10 of MEN1 gene might induce development of 
      parathyroid hyperplasia and pituitary adenoma and cosegregate with MEN1 syndrome. 
      The significance of the new found IVS3 + 18C > T of MEN1 needs a further 
      investigation.
FAU - Zha, Bing-bing
AU  - Zha BB
AD  - Department of Endocrinology, Shanghai Fifth People's Hospital, Shanghai Medical 
      School, Fudan University, Shanghai 200240, China.
FAU - Liang, Wang
AU  - Liang W
FAU - Liu, Jun
AU  - Liu J
FAU - Cheng, Juan
AU  - Cheng J
FAU - Hong, Xiao-wu
AU  - Hong XW
FAU - Liu, Jing
AU  - Liu J
FAU - Li, Yi-ming
AU  - Li YM
FAU - Ma, Duan
AU  - Ma D
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Chin Med J (Engl)
JT  - Chinese medical journal
JID - 7513795
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutation
MH  - Polymorphism, Single Nucleotide
MH  - Proto-Oncogene Proteins/*genetics
MH  - Sequence Analysis, DNA
EDAT- 2010/04/07 06:00
MHDA- 2010/06/30 06:00
CRDT- 2010/04/07 06:00
PHST- 2010/04/07 06:00 [entrez]
PHST- 2010/04/07 06:00 [pubmed]
PHST- 2010/06/30 06:00 [medline]
PST - ppublish
SO  - Chin Med J (Engl). 2010 Mar 5;123(5):569-73.