A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance

摘要

Resistance to thyroid hormone beta (RTHβ) is characterized by elevated thyroid hormone and unsuppressed thyroid-stimulating hormone (TSH), caused by thyroid hormone receptor beta gene ( ) defects. Most mutations producing RTHβ phenotype are located in CG-rich regions of , encoding the T3-binding and hinge domains of the receptor. However, a region encompassing codons 384–425 is virtually devoid of RTHβ-causing mutations, termed “cold region.”