A NOVEL MISSENSE MUTATION IN THE THYROID-HORMONE RECEPTOR-BETA GENE IN A KINDRED WITH RESISTANCE TO THYROID-HORMONE

Authors
KIJIMA H KUBO M ISHIZUKA T KAKINUMA M KOIKE T
Citation
H. Kijima et al., A NOVEL MISSENSE MUTATION IN THE THYROID-HORMONE RECEPTOR-BETA GENE IN A KINDRED WITH RESISTANCE TO THYROID-HORMONE, Human genetics, 97(3), 1996, pp. 407-408
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
97
Issue
3
Year of publication
1996
Pages
407 - 408
Database
ISI
SICI code
0340-6717(1996)97:3<407:ANMMIT>2.0.ZU;2-C
Abstract
Direct sequencing of exon 9 of the thyroid hormone receptor beta (TR b eta) gene in a kindred with resistance to thyroid hormone revealed a s ubstitution of threonine for methionine in codon 313 in one allele res ulting from a T to C transition. This is a novel missense mutation tha t resides in one of the two mutational ''hot-spot'' regions of the TR beta gene suggesting altered triiodothyronine binding to this mutant r eceptor.