PMID- 22522645
OWN - NLM
STAT- MEDLINE
DCOM- 20130930
LR  - 20221207
IS  - 1720-8386 (Electronic)
IS  - 0391-4097 (Linking)
VI  - 36
IP  - 3
DP  - 2013 Mar
TI  - A novel intronic mutation and a missense mutation of MEN1 identified in two 
      Chinese families with multiple endocrine neoplasia type 1.
PG  - 162-7
LID - 10.3275/8336 [doi]
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) caused by MEN1 mutation is 
      widely recognized. To date, 14 novel mutations were reported in Chinese and 
      intronic mutations are getting more attention. AIM: To explore clinical features 
      and MEN1 mutations in two Chinese families suffering from MEN1. METHODS: Nineteen 
      individuals (10 males and 9 females) from two unrelated families with MEN1 were 
      studied. Mutations of MEN1 were analyzed by direct sequencing of PCR products. In 
      vitro splicing analysis was also performed with minigenes containing both 
      wildtype and novel mutant fragments. Through the RNAstructure program, we 
      analyzed the secondary structure of the wild type MEN1 pre-mRNA and then 
      introduced T>G mutation at +2 donor splice site of intron 7. RESULTS: Clinical 
      features of 3 patients in two families were described, and 5 individuals were 
      proven to be carriers of MEN1 mutation without apparent symptoms. A novel 
      splicing site mutation of the intron 7 (IVS7+2 T-->G) was identified in the first 
      family. In vitro analysis also verified this mutation caused the aberrant 
      splicing of MEN1 mRNA. With the RNAstructure program, we could figure out that 
      the global secondary structure as well as the number of stems and loops of 
      pre-mRNA greatly changed after this mutation. The mutation c. 1227 C>A (C409X) 
      was identified in another family, which also caused the truncation of menin. 
      CONCLUSION: We reported a novel intronic mutation and a missense mutations in two 
      Chinese families suffering from MEN1.
CI  - (c)2013, Editrice Kurtis
FAU - Han, B
AU  - Han B
AD  - Department of Endocrinology, Shanghai Ninth People's Hospital, Shanghai, China.
FAU - Song, Z Y
AU  - Song ZY
FAU - Wu, J J
AU  - Wu JJ
FAU - Liu, W
AU  - Liu W
FAU - Liu, B L
AU  - Liu BL
FAU - Ye, X P
AU  - Ye XP
FAU - Chen, X
AU  - Chen X
FAU - Pan, C M
AU  - Pan CM
FAU - Xu, H Y
AU  - Xu HY
FAU - Li, L
AU  - Li L
FAU - Zhu, H
AU  - Zhu H
FAU - Lu, Y L
AU  - Lu YL
FAU - Wu, W L
AU  - Wu WL
FAU - Chen, M D
AU  - Chen MD
FAU - Song, H D
AU  - Song HD
FAU - Qiao, J
AU  - Qiao J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120405
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (RNA Precursors)
SB  - IM
MH  - Adult
MH  - Aged, 80 and over
MH  - Asian People/genetics
MH  - Base Sequence
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Infant
MH  - Introns/genetics
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation, Missense/physiology
MH  - Nucleic Acid Conformation
MH  - Pedigree
MH  - Proto-Oncogene Proteins/*genetics
MH  - RNA Precursors/chemistry/genetics
EDAT- 2012/04/24 06:00
MHDA- 2013/10/01 06:00
CRDT- 2012/04/24 06:00
PHST- 2012/04/24 06:00 [entrez]
PHST- 2012/04/24 06:00 [pubmed]
PHST- 2013/10/01 06:00 [medline]
AID - 8336 [pii]
AID - 10.3275/8336 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 2013 Mar;36(3):162-7. doi: 10.3275/8336. Epub 2012 Apr 5.