A Germline Mutation in a Thai Family with Familial Multiple Endocrine Neoplasia Type 1
Thiti Snabboon, MD*, Wanee Plengpanich, MSc*, Vorasuk Shotelersuk, MD**, Sasitorn Sirisalipoch, MD***, Banthoon Nonthasoot, MD****, Boonchoo Sirichindakul, MD****, Naruemon Wisedopas, MD*****, Sompongse Suwanwalaikorn, MD*
Affiliation : * Department of Internal Medicine, Faculty of Medicine, Chulalongkorn University ** Department of Pediatrics, Faculty of Medicine, Chulalongkorn University *** Department of Radiology, Faculty of Medicine, Chulalongkorn University **** Department of Surgery, Faculty of Medicine, Chulalongkorn University ***** Department of Pathology, Faculty of Medicine, Chulalongkorn University
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.
Keywords : Multiple endocrine neoplasia type 1, MEN1 gene, Mutation analysis
