A germline mutation in a Thai family with familial multiple endocrine neoplasia type 1.
Article
in English
| IMSEAR
| ID: sea-40362
ABSTRACT
Multiple endocrine neoplasia type 1, caused by the mutation in the MEN1 gene, is an autosomal dominant disorder with over 95% penetrance characterized by hyperparathyroidism, pancreatic endocrine tumor and pituitary tumor. The authors performed a molecular analysis to identify a mutation in a Thai man with MEN1. He was found to be heterozygous for IVS6 + 1G to A. Two of his three children were also found to carry this mutation. The newly available genetic test for patients with MEN1 in Thailand makes it possible to accurately DNA-based diagnose clinically suspected individuals and their presymptomatic members, which has important therapeutic impacts on them.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Pedigree
/
Thailand
/
Female
/
Humans
/
Male
/
Germ-Line Mutation
/
Multiple Endocrine Neoplasia Type 1
/
Adult
Type of study:
Prognostic study
Country/Region as subject:
Asia
Language:
English
Year:
2005
Type:
Article
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