Publication: An identical neo-mutation in the thyroid hormone receptor β gene (A317T) in 2 unrelated Thai families with resistance to thyroid hormone
Issued Date
2000-02-01
Resource Type
ISSN
01252208
Other identifier(s)
2-s2.0-0042780824
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of the Medical Association of Thailand. Vol.83, No.2 (2000), 139-145
Suggested Citation
Thongkum Sunthornthepvarakul, Supawadee Likitmaskul, Supunnee Ngowngarmratana, Somchit Jaruratanasirikul, Kitti Angsusingha An identical neo-mutation in the thyroid hormone receptor β gene (A317T) in 2 unrelated Thai families with resistance to thyroid hormone. Journal of the Medical Association of Thailand. Vol.83, No.2 (2000), 139-145. Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/26291
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
An identical neo-mutation in the thyroid hormone receptor β gene (A317T) in 2 unrelated Thai families with resistance to thyroid hormone
Other Contributor(s)
Abstract
We reported two unrelated Thai girls with resistance to thyroid hormone. The affected patients presented with goiter and no other stigmata of hyperthyroidism. Their serum T4, T3, free T4 and free T3 concentrations were high and they had normal levels of TSH. The affected girl in family 1 was treated with an antithyroid drug for 1-9/12 years. The affected girl in family 2 was only observed her thyroid function tests. TRH test showed normal TSH response in both girls. Analysis of the thyroid hormone receptor β gene of both affected girls revealed the same missense mutation, changing the guanine in nucleotide 1234 to an adenine which results in the replacement of the normal alanine (GCT) with a threonine (ACT) at codon 317. Two proposita were heterozygous, and this mutation was not present in their parents compatible with a neomutation.