Pedigree analysis of a pituitary-resistance to thyroid hormone syndrome family caused by heterozygous A317T mutation in thyroid hormone receptor β gene
10.3760/cma.j.issn.1000-6699.2017.03.008
- VernacularTitle:甲状腺激素受体β基因A317T杂合突变致垂体甲状腺激素抵抗综合征家系分析
- Author:
Baoan WANG
;
Min WANG
;
Juming LU
;
Yiming MU
;
Qinghua GUO
;
Zhaohui LYU
- Keywords:
Thyroid hormone resistance syndrome;
Pituitary-resistance to thyroid hormone syndrome;
Thyroid hormone receptor β;
Mutation;
Chinese
- From:
Chinese Journal of Endocrinology and Metabolism
2017;33(3):215-219
- CountryChina
- Language:Chinese
-
Abstract:
To study thyroid hormone receptor β(THRβ)gene mutation in a pituitary-resistance to thyroid hormone syndrome family. The peripheral blood samples of the patient, his sister, parents, and 4 maternal relatives were collected. Then serum was isolated for detecting thyroid hormone levels with chemiluminescence immunoassay, and DNA was extracted for PCR, and 10 exons of THRβ gene were sequenced. The patient and his mother had the hyperthyroid symptom for many years and his mother with atrial fibrillation. The G→A heterozygous transition mutation was confirmed by exon sequencing at nucleotide 949 within exon 9 of THRβ gene in the patient and his mother, which was a missense mutation causing a substitution of Alanine to Threonine(A317T). No mutation was found in THRβ gene in other family members. This is the first Chinese family reported with pituitary thyroid hormone resistance syndrome caused by a A317T mutation in the thyroid hormone receptor β gene.
