A germline mutation in a Thai family with familial multiple endocrine neoplasia type 1.
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.
Snabboon
Thiti
T
Department of Internal Medicine, Faculty of Medicine, Chulalongkorn University, Patumwan, Bangkok 10330, Thailand. fmedtsb@md.chula.ac.th
Plengpanich
Wanee
W
Shotelersuk
Vorasuk
V
Sirisalipoch
Sasitorn
S
Nonthasoot
Banthoon
B
Sirichindakul
Boonchoo
B
Wisedopas
Naruemon
N
Suwanwalaikorn
Sompongse
S
D000328:Adult; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013785:Thailand