Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.

ABSTRACT:

Sub-heading

Compound hemizygous variants in SERPINA7 gene.

Background

Thyroxine-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 methods

In 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

SUBMITTER: Fang Y 

PROVIDER: S-EPMC8077092 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature