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Updated: Aug 14, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families
S Refetoff1, H Tunca, D L Wilansky
1Department of Medicine, J.P. Kennedy Jr. Mental Retardation Research Center, The University of Chicago, Illinois 60637, USA.
Abstract:
Two families expressing the RTH phenotype and harboring the same mutation in the TRbeta gene are described. Five and four affected members in each family were investigated as well as a total of 12 unaffected relatives. The mutation, a T to C transition of nucleotide 1223 in one allele of affected individuals, results in the replacement of the normal Met for a Thr. Haplotyping revealed that the same mutation developed in each family independently. Whereas attention deficit hyperactivity disorder was associated with RTH in 7 of the 9 affected individuals, it was also present in 2 family members without RTH.
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