Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene
| Autor: | H.-N. Qi, Q. Zheng, D.-M. Ye, S.-W. Pang, L.-H. Li, L. Li, X.-Z. Wen, L.-D. Chen, Huijie Lu, W.-B. Xu, X.-Y. Huang, Y.-L. Gan |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Proband Abortion Habitual China Thyroxine-Binding Globulin Endocrinology Diabetes and Metabolism Mutation Missense 030209 endocrinology & metabolism Thyroid Function Tests Gene mutation Biology medicine.disease_cause Thyroid function tests Open Reading Frames 03 medical and health sciences symbols.namesake 0302 clinical medicine Endocrinology Pregnancy medicine Humans Family X chromosome Genetics Sanger sequencing Mutation medicine.diagnostic_test Thyroid Genetic Diseases X-Linked Pedigree medicine.anatomical_structure 030220 oncology & carcinogenesis symbols Female Thyroid function |
| Zdroj: | Journal of Endocrinological Investigation. 43:1703-1710 |
| ISSN: | 1720-8386 |
| DOI: | 10.1007/s40618-020-01245-1 |
| Popis: | T4-binding globulin (TBG) is the main thyroid hormone (TH) transporter present in human serum. Inherited thyroxine-binding globulin (TBG) deficiency is caused by mutations in the TBG (SERPINA7) gene, which is located on the X chromosome. This study was performed to report and evaluate coding region mutations in TBG gene for partial thyroxine-binding globulin deficiency. A pedigree spanning four generations is described in this study. The proband is a female with partial TBG deficiency. All members of this pedigree underwent thyroid function tests, while Sanger sequencing was used to identify the TBG gene mutations. Bioinformatics databases were used to evaluate the deleterious effects of the mutation(s). Two hundred and seven unrelated individuals were used to evaluate the thyroid function of individuals with different TBG mutations. A one-way ANOVA was used to analyze the impact of the TBG mutations on thyroid function. TBG gene sequencing results revealed that the proband had a novel mutation in codon 27 leading to alanine to valine substitution (p.A27V). This mutation was associated with lower serum T4 levels (p |
| Databáze: | OpenAIRE |
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