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A germline mutation in a Thai family with familial multiple endocrine neoplasia type 1
Thiti Snabboon1, Wanee Plengpanich, Vorasuk Shotelersuk
1Department of Internal Medicine, Faculty of Medicine, Chulalongkorn University, Patumwan, Bangkok 10330, Thailand. fmedtsb@md.chula.ac.th
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.
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