title: A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone.
abstract: Resistance to thyroid hormone (RTH) is characterized by variable tissue hyporesponsiveness to thyroid hormone caused by mutations of thyroid hormone receptor beta (TRbeta) gene. We found a novel point mutation of the TRbeta gene in a family (F123) with RTH, a transition of a guanine to adenine at nucleotide 1215, which replaced the normal Met-310 with Ile. This substitution was found in only one allele of affected family members. In vitro transcription and translation of this mutant TRbeta demonstrated a 12-fold reduction of the affinity for triiodothyronine (T3) compared with the wild type TRbeta. Thyroid function tests were similar to a previously reported RTH family (F99) who had a different mutation in the same codon (Thr 310).
authors.affiliation: Department of Pediatrics, Gunma University School of Medicine, Maebashi, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Nagashima
authors.forename: H
authors.initials: H
authors.lastname: Yagi
authors.forename: K
authors.initials: K
authors.lastname: Nagashima
authors.forename: A
authors.initials: A
authors.lastname: Sakurai
authors.forename: K
authors.initials: K
authors.lastname: Onigata
authors.forename: Y
authors.initials: Y
authors.lastname: Nomura
authors.forename: A
authors.initials: A
authors.lastname: Morikawa
authors.forename: G
authors.initials: G
authors.lastname: Matazow
authors.forename: R M
authors.initials: RM
authors.lastname: Couch
authors.forename: R E
authors.initials: RE
authors.lastname: Weiss
authors.forename: S
authors.initials: S
authors.lastname: Refetoff
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics*
chemical_list: D011988:Receptors, Thyroid Hormone