PMID- 19405259
OWN - NLM
STAT- MEDLINE
DCOM- 20090617
LR  - 20191126
IS  - 0254-8860 (Print)
IS  - 0254-8860 (Linking)
VI  - 27
IP  - 6
DP  - 2008 Nov-Dec
TI  - An Indian family of multiple endocrine neoplasia type 1 (MEN1): molecular 
      diagnosis, treatment and follow up.
PG  - 242-4
AB  - BACKGROUND/OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal, 
      dominant syndrome, characterized mainly by the combination of tumors involving 
      the parathyroid, pancreatic and pituitary glands. Genetic sequencing leading to 
      early treatment of family members has not yet been reported in Indian patients. 
      METHODS: We performed molecular analysis of the MEN1 gene to identify mutations 
      in an Indian family with MEN1 syndrome. The proband was identified with multiple 
      peptic ulcers because of multifocal recurrent gastrinomas, as well as parathyroid 
      and pituitary adenomas. All the 10 exons of the MEN1 gene were amplified using 
      the polymerase chain reaction (PCR). The MEN1 gene was then screened by direct 
      DNA sequencing. RESULTS: The proband is asymptomatic 3 years after total 
      pancreatectomy and removal of parathyroid adenomas. DNA sequencing revealed the 
      presence of a heterozygous Y227X mutation in exon 4 of the MEN1 gene in the 
      proband. Four of the seven mutant-carrying family members are at present 
      asymptomatic. Following screening, one asymptomatic child has been identified 
      with and treated for insulinoma and parathyroid adenoma. CONCLUSION: Detection of 
      the MEN1 gene mutation enables selection of family members for screening and 
      long-term follow up.
FAU - Shah, Sudeep R
AU  - Shah SR
AD  - Division of Surgery, P D Hinduja National Hospital and Medical Research Centre, 
      Mumbai, India. shahsudeep@hotmail.com
FAU - Raghavan, Rani
AU  - Raghavan R
FAU - Desai, Devendra C
AU  - Desai DC
FAU - Chauhan, Phulrenu H
AU  - Chauhan PH
FAU - Lala, Murad
AU  - Lala M
FAU - Dherai, Alpa J
AU  - Dherai AJ
FAU - Ashavaid, Tester F
AU  - Ashavaid TF
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - India
TA  - Indian J Gastroenterol
JT  - Indian journal of gastroenterology : official journal of the Indian Society of 
      Gastroenterology
JID - 8409436
SB  - IM
CIN - Indian J Gastroenterol. 2008 Nov-Dec;27(6):225-6. PMID: 19405254
MH  - Adult
MH  - Case-Control Studies
MH  - Female
MH  - Follow-Up Studies
MH  - Humans
MH  - India
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/*genetics/therapy
MH  - Mutation
MH  - Pedigree
MH  - Polymerase Chain Reaction
EDAT- 2009/05/02 09:00
MHDA- 2009/06/18 09:00
CRDT- 2009/05/02 09:00
PHST- 2009/05/02 09:00 [entrez]
PHST- 2009/05/02 09:00 [pubmed]
PHST- 2009/06/18 09:00 [medline]
PST - ppublish
SO  - Indian J Gastroenterol. 2008 Nov-Dec;27(6):242-4.