Familial amyloidotic polyneuropathy associated with the transthyretin CYS 114 gene in a Russian pair of monozygotic twins.

• DOI: 10.1186/1750-1172-10-s1-p16
• Publication Date: 2015-11-03T05:02:22Z
• Authors: Igor Srokov Igor; Galina Diukova; Aleksandr Pogromov; Maria Kovalchuk; Eduard Generozov
• Keywords: 0301 basic medicine; 03 medical and health sciences; Poster Presentation; 3. Good health

Background Discordant course of the disease in monozygotic (MZ) twins is known to be characteristic for familial amyloidotic polyneuropathy (FAP). Existing cases of FAP in MZ twins refer to amyloidosis due to mutant transthyretin (TTR) Val30Met gene. We present a case of a pair of MZ twins associated with a substitution of tyrosine to cysteine at position 114 in the TTR gene in a Russian kindered. Until now FAP due to mutant TTR Cys 114 has only been described in one Japanese and in one Dutch family. Though in none of them MZ twins were present.