title: Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH).
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.
authors.affiliation: Department of Medicine, J.P. Kennedy Jr. Mental Retardation Research Center, The University of Chicago, Illinois 60637, USA.
authors.forename: S
authors.initials: S
authors.lastname: Refetoff
authors.forename: H
authors.initials: H
authors.lastname: Tunca
authors.forename: D L
authors.initials: DL
authors.lastname: Wilansky
authors.forename: V C
authors.initials: VC
authors.lastname: Mussey
authors.forename: R E
authors.initials: RE
authors.lastname: Weiss
mesh_terms: D000483:Alleles; D002648:Child; D004247:DNA / Q000737:chemistry; D015246:Deoxyribonuclease EcoRI; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D017422:Sequence Analysis, DNA; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics*
chemical_list: D011988:Receptors, Thyroid Hormone; D004247:DNA; D015246:Deoxyribonuclease EcoRI; C040837:endodeoxyribonuclease MaeII; D015252:Deoxyribonucleases, Type II Site-Specific