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Nomenclature of thyroid hormone receptor-β gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10–11th July 1993, Cambridge, UK

Resistance to thyroid hormone is usually dominantly inherited and characterized by elevated thyroid hormone levels together with reduced central and peripheral responsiveness to hormone action. Following linkage of this disorder to the thyroid hormone receptor-β (TR-β) gene locus (1), a number of studies have identified TR-β mutations in this thyroid hormone resistance disorder. Cloning of the cDNA-encoding human TR-β1 (2) initially suggested an open reading frame of 456 amino acids. However, subsequent sequencing of this cDNA as well as genomic clones shows a guanine rather than an adenine at nucleotide position 288, generating a new initiation codon (3) and leading to a predicted protein sequence that contains 461 amino acids. In addition, the exons of the TR-β gene have been numbered either from 00 to 8 or from 1 to 10, depending on the designation of the non-coding exons. Publications to date have used both notations to describe TR-β mutations,

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