Thyroid hormone resistance syndrome caused by V458A mutation in the thyroid hormone receptor ? gene / 中华内分泌代谢杂志

ABSTRACT

Objective To study the genotype of the thyroid hormone receptor ? (THRB) gene in a patient with thyroid hormone resistance syndrome. Methods The peripheral blood samples of the patient and his parents were collected, then DNA was isolated. PCR and direct sequencing techniques were performed to determine if there were mutations in their THRB gene. Results No mutation was found in exon 1-9. There was a point mutation in exon 10 of THRB which is a T to C transition in nucleotide 1658 resulting in the replacement of the normal Val (GTG) with an Ala (GCG) (V458A). The mutation was located in exon 10 of THRB gene and was a heterozygote. No mutation was found in THRB gene of his parents.Conclusion The gene diagnosis confirms that the patient has a mutation V458A located in the ligand binding area of THRB.