Article
Different phenotypes of multiple endocrine neoplasia type 1 (MEN1) in monozygotic twins found in a Japanese MEN1 family with MEN1 gene mutation.
Endocrine journal - 1 Feb 2000
Namihira H, Sato M, Miyauchi A, Ohye H, Matsubara S, Bhuiyan M M, Murao K, Ameno S, Ameno K, Ijiri I, Takahara J
Abstract excerpt
We report monozygotic twins who showed different MEN1 phenotypes. The proband (28 y.o., female) had both primary hyperparathyroidism (PHP) and insulinoma, and genetic analysis revealed a point mutation (569del1, exon 3) of the MEN1 gene. This mutation causes a frameshift and produces a stop codon at codon 184. Restriction digestion (HinfI) analysis confirmed the same mutation of the MEN1 gene in six of the...
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