AI Article Synopsis
- Thyroxine-binding globulin (TBG) is a protein that carries about 75% of the thyroid hormones T4 and T3, and it is encoded by the serpina7 gene located on the X chromosome.
- A deficiency in TBG can be suspected when there's low serum levels of T4 and T3 but normal thyroid-stimulating hormone (TSH) levels, often due to mutations in the serpina7 gene.
- A new variant of the serpina7 gene was identified in a family, causing a specific amino acid change that leads to undetectable TBG levels, suggesting it as the cause of TBG deficiency in the studied individual.
Article Abstract
Thyroxine-binding globulin (TBG) carries approximately 75% of serum T4 and T3. This protein is encoded by serpina7 gene, formerly known as TBG gene, localized on X-chromosome (Xq22.2). A deficiency in TBG is suspected when abnormally low serum total T4 and T3 are encountered in clinically euthyroid subjects in the presence of normal serum TSH. This condition has been associated with different serpina7 gene mutations resulting in amino acid substitutions or truncations in the mature protein. Herein, we report a new serpina7 gene variant in three members of the same family. It results in the replacement of the normal asparagine 233 by isoleucine and, subsequently, in disruption of a glycosylation site. Co-segregation of this new variant with undetectable levels of TBG in the hemizygous man studied and failure to recognize the same variant in 100 alleles at random, made us to consider it as the underlying cause of the TBG deficiency.
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| http://dx.doi.org/10.1007/s12020-009-9202-2 | DOI Listing |
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