PMID- 17397250
OWN - NLM
STAT- MEDLINE
DCOM- 20070621
LR  - 20181113
IS  - 1177-1062 (Print)
IS  - 1177-1062 (Linking)
VI  - 11
IP  - 2
DP  - 2007
TI  - MEN1 935-1G>C splicing mutation in an Indian patient with multiple endocrine 
      neoplasia type 1.
PG  - 129-31
AB  - BACKGROUND AND OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an 
      autosomal dominant syndrome characterized mainly by multiple tumors involving 
      parathyroid, pancreatic, and pituitary glands. To date, there have been no 
      genetic studies reported on MEN1 in the Indian population. In order to begin to 
      establish molecular diagnosis to improve the management of MEN1 in India, we 
      performed a molecular analysis of the MEN1 gene in a patient of Indian origin. 
      METHODS: Molecular analysis of the MEN1 gene was performed to identify mutations 
      in an Indian patient previously diagnosed with sporadic MEN1. All the 10 exons of 
      the MEN1 gene were amplified using the polymerase chain reaction and screened by 
      direct DNA sequencing. RESULTS: The DNA sequencing results revealed the presence 
      of an intronic, heterozygous, splicing mutation 935-1G>C in intron 5 of the MEN1 
      gene. CONCLUSION: This study provides the first data on genetic analysis of MEN1 
      in Indian patients.
FAU - Raghavan, Rani
AU  - Raghavan R
AD  - Research Laboratories, P.D. Hinduja National Hospital and Medical Research 
      Centre, Mumbai, India.
FAU - Shah, Sudeep
AU  - Shah S
FAU - Kondkar, Altaf A
AU  - Kondkar AA
FAU - Dherai, Alpa J
AU  - Dherai AJ
FAU - Desai, Devendra
AU  - Desai D
FAU - Chauhan, Phulrenu
AU  - Chauhan P
FAU - Lala, Murad
AU  - Lala M
FAU - Ashavaid, Tester F
AU  - Ashavaid TF
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - New Zealand
TA  - Mol Diagn Ther
JT  - Molecular diagnosis & therapy
JID - 101264260
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adenoma/complications/genetics
MH  - Adult
MH  - Alternative Splicing/*genetics
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - Gastrinoma/complications/genetics
MH  - Humans
MH  - India
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pancreatic Neoplasms/complications/genetics
MH  - Pituitary Neoplasms/complications/genetics
MH  - *Point Mutation
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2007/04/03 09:00
MHDA- 2007/06/22 09:00
CRDT- 2007/04/03 09:00
PHST- 2007/04/03 09:00 [pubmed]
PHST- 2007/06/22 09:00 [medline]
PHST- 2007/04/03 09:00 [entrez]
AID - 11210 [pii]
AID - 10.1007/BF03256233 [doi]
PST - ppublish
SO  - Mol Diagn Ther. 2007;11(2):129-31. doi: 10.1007/BF03256233.