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*
* 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
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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.
Keyword : Multiple endocrine neoplasia type 1, MEN1 gene, Mutation analysis
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