Advances and Perspectives in Genetics of Congenital Thyroid Disorders Associated with Thyroglobulin Gene Mutations
Journal Title: Open Journal of Biological Sciences - Year 2016, Vol 1, Issue 1
Abstract
Dyshormonogenesis due to thyroglobulin (TG) gene mutations is a rare cause of congenital hypothyroidism with an estimated incidence of approximately 1 in 100,000 newborns. The TG gene is organized in 48 exons, spanning over 270 kb on human chromosome 8q24. The human TG mRNA is 8.5 Kb long and the preprotein monomer is composed of a 19 amino acids signal peptide followed by a 2749 residues polypeptide. Until now, one hundred seventeen deleterious mutations in the human TG gene have been identified and characterized, originating structural changes in the protein that alter the normal protein folding, assembly and biosynthesis of thyroid hormones: 19 splice site mutations, 23 nonsense mutations, 57 missense mutations, 13 deletions (9 single nucleotide deletions, 2 multiple nucleotide deletions and 2 involving a large number of nucleotides), 4 single nucleotide insertions or duplication and 1 imperfect DNA inversion. The p.R277*, p.R1511*, p.A2215D, p.R2223H and p.R2317* mutations are the most frequently identified TG mutations in Caucasian population, whereas c.274+2T>G, p.C1058R, p.C1245R and p.C1977S are the most common mutations in Asian population.
Authors and Affiliations
Targovnik Héctor M, Citterio Cintia E, Siffo Sofia, Rivolta Carina M
Keywords
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- EP ID EP555670
- DOI 10.17352/ojbs.000006
- Views 57
- Downloads 0
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