ArticleMolecular genetics & genomic medicine2021
Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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8 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications.Nature communications · 2024Pooled it
- Identification of recurrent pathogenic SERPINA7 mutation causing coexistence of TBG-CD and hypothyroidism in Indian pedigrees: in Silico structural analysis of mutant TBG and literature reappraisal.Thyroid research · 2026Article
- Serpina3c protects against metabolic dysfunction-associated steatotic liver disease in offspring induced by prenatal prednisone exposure.Signal transduction and targeted therapy · 2026Article
- Review
- Hyperthyroidism Associated with Gestational Trophoblastic Neoplasia: Systematic Literature Review and Pathways Analysis.Cancers · 2025Review
- Four Markers Useful for the Distinction of Intrauterine Growth Restriction in Sheep.Animals : an open access journal from MDPI · 2023Article
- Partial Thyroid Hormone-Binding Globulin Deficiency: A Case Report and Literature Review.Diabetes, metabolic syndrome and obesity : targets and therapy · 2023Article
- Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.Endocrinology and metabolism (Seoul, Korea) · 2022Article
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Authors and funding
5 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
SUB-HEADING: Compound hemizygous variants in SERPINA7 gene.
backgroundThyroxine-binding globulin (TBG) is encoded by SERPINA7 (OMIM. 314200) which is located on Xq22.3. SERPINA7 variants caused TBG deficiency which does not require treatment, but the decreased thyroxine may be misdiagnosed as hypothyroidism. We discovered some variants of TBG caused by alterations that differ from previously reported. MATERIALS AND
methodsIn this study, we enrolled 32 subjects from 10 families and sequenced the SERPINA7 genes of TBG-deficient subjects. Then, variants were analyzed to assess their effect on TBG expression and secretion. Bioinformatics database, protein structure, and dynamics simulation were used to evaluate the deleterious effects. Finally, we identified 2 novel and 4 known variants, and found 26 of 30 subjects carried the p.L303F. The DynaMut predictions indicated the variants (p.E91K, p.I92T, p.R294C, and p.L303F) exhibited decreased stability.
conclusionAnalyses revealed the p.L303F change the protein stability and flexibility, and it had an impact on the function of TBG, but when coexisted with other variants it might change the conformational structure of the protein and aggravate the damage to the protein. We speculated that the existence of a higher number of variants resulted in lower TBG secretion.
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