PMID- 20710116
OWN - NLM
STAT- MEDLINE
DCOM- 20110211
LR  - 20221207
IS  - 1348-4540 (Electronic)
IS  - 0918-8959 (Linking)
VI  - 57
IP  - 9
DP  - 2010
TI  - A novel mutation of the MEN1 gene in a Chinese kindred with multiple endocrine 
      neoplasia type 1.
PG  - 839-45
AB  - Germline mutations in the MEN1 gene are well documented as the genetic cause of 
      multiple endocrine neoplasia type 1 (MEN1). In this study, we performed genetic 
      analysis by direct MEN1 gene mutation analysis on a Chinese MEN1 family. The two 
      patients in this family were diagnosed as MEN1 by the typical clinical findings 
      of parathyroidoma, insulinoma and pituitary adenoma. The coding sequences, 
      including 9 coding exons and exon/intron boundaries of the MEN1 gene were 
      amplified by polymerase chain reaction (PCR) and subjected to direct sequencing. 
      Sequence analysis showed a same novel insertion mutation in exon 3 (c.433_434ins 
      CTTC) in both patients, resulting in an open reading frames shift and produced a 
      premature termination codon. None of the other family members had this insert 
      mutation. In conclusion, we add a new mutation of MEN1 gene in Chinese patients 
      with MEN1, and it would be useful for the diagnosis of the disease.
FAU - Xu, Lei
AU  - Xu L
AD  - Department of Endocrinology, Affiliated East Hospital, Tongji University, 
      Shanghai, China.
FAU - Li, Xu
AU  - Li X
FAU - Feng, Bo
AU  - Feng B
FAU - Ni, Yafang
AU  - Ni Y
FAU - Wang, Hua
AU  - Wang H
FAU - Wang, Lin
AU  - Wang L
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100811
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
RN  - 0 (Codon, Nonsense)
SB  - IM
MH  - Adenoma/genetics
MH  - Adolescent
MH  - Asian People/genetics
MH  - Base Sequence
MH  - China
MH  - Codon, Nonsense
MH  - Female
MH  - Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutagenesis, Insertional
MH  - Mutation
MH  - Pancreatic Neoplasms/surgery
MH  - Parathyroid Neoplasms/surgery
MH  - Pedigree
MH  - Pituitary Neoplasms/genetics
EDAT- 2010/08/17 06:00
MHDA- 2011/02/12 06:00
CRDT- 2010/08/17 06:00
PHST- 2010/08/17 06:00 [entrez]
PHST- 2010/08/17 06:00 [pubmed]
PHST- 2011/02/12 06:00 [medline]
AID - JST.JSTAGE/endocrj/K10E-116 [pii]
AID - 10.1507/endocrj.k10e-116 [doi]
PST - ppublish
SO  - Endocr J. 2010;57(9):839-45. doi: 10.1507/endocrj.k10e-116. Epub 2010 Aug 11.