A novel missense mutation in the thyroid hormone receptor beta gene in a kindred with resistance to thyroid hormone.
Direct sequencing of exon 9 of the thyroid hormone receptor beta (TRbeta) gene in a kindred with resistance to thyroid hormone revealed a substitution of threonine for methionine in codon 313 in one allele resulting from a T to C transition. This is a novel missense mutation that resides in one of the two mutational "hot-spot" regions of the TR beta gene suggesting altered triiodothyronine binding to this mutant receptor.
Kijima
H
H
Department of Internal Medicine II, Hokkaido University School of Medicine, Sapporo, Japan.
Kubo
M
M
Ishizuka
T
T
Kakinuma
M
M
Koike
T
T
D000328:Adult; D001483:Base Sequence; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D014284:Triiodothyronine / Q000235:genetics*
D011988:Receptors, Thyroid Hormone; D014284:Triiodothyronine