A germline mutation in a Thai family with familial multiple endocrine neoplasia type 1
Snabboon, T.; Plengpanich, W.; Shotelersuk, V.; Sirisalipoch, S.; Nonthasoot, B.; Sirichindakul, B.; Wisedopas, N.; Suwanwalaikorn, S.
Journal of the Medical Association of Thailand 88(2): 191-195
2005
ISSN/ISBN: 0125-2208 PMID: 15962670 Document Number: 2084
xMultiple 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 MEN]. 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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