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- W2016190735 startingPage "44" @default.
- W2016190735 abstract "Thyroglobulin (TG) defects due to TG gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. This dyshormonogenesis displays a wide phenotype variation and is characterized usually by: the presence of congenital goiter or goiter appearing shortly after birth, high (131)I uptake, negative perchlorate discharge test, low serum TG and elevated serum TSH with simultaneous low serum T(4) and low, normal or high serum T(3). Mutations in TG gene have been also reported associated with endemic and euthyroid nonendemic simple goiter. TG gene defects are inherited in an autosomal recessive manner and affected individuals are either homozygous or compound heterozygous for mutations. Up to now, 50 mutations have been identified and characterized in the human TG: 23 missense mutations, 10 nonsense mutations, 5 single and 1 large nucleotide deletions, 1 single nucleotide insertion and 10 splice site mutations. The functional consequences of this mutations could be structural changes in the protein molecule that alter the normal protein folding, assembly and biosynthesis of thyroid hormones, leading to a marked reduction in the ability to export the protein from the endoplasmic reticulum." @default.
- W2016190735 created "2016-06-24" @default.
- W2016190735 creator A5020281241 @default.
- W2016190735 creator A5022777211 @default.
- W2016190735 creator A5082707995 @default.
- W2016190735 date "2010-06-30" @default.
- W2016190735 modified "2023-10-16" @default.
- W2016190735 title "Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations" @default.
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