Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene

Abstract

Genetic analysis of TG gene was performed in two sisters affected by CH. A novel point mutation of the TG gene determining a stop codon at position 768 of the protein was identified. The early truncated nonfunctioning protein or the absence of the protein due to the premature degradation of abnormal mRNA may be responsible of the observed phenotype.

Genome-wide haplotype association study identify TNFRSF1A, CASP7, LRP1B, CDH1 and TG genes associated with Alzheimer's disease in Caribbean Hispanic individuals

“…Thyroglobulin (TG) is a glycoprotein homodimer produced predominantly by the thryroid gland. Mutations in this gene cause thyroid dyshormonogenesis, and are associated with moderation to severe congenital hypothyroidism [ 42 , 43 ]. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as graves disease and hashimoto thryoiditis [ 44 ].…”

Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5′ splice site in the exon 6

“…Several patients were identified with dyshormonogenesis caused by mutations in the TG gene (Abdul-Hassan et al, 2013;Agretti et al, 2013;Alzahrani et al, 2006;Cangul et al, 2014;Caputo et al, 2007aCaputo et al, , 2007bCaron et al, 2003;Citterio et al, 2011Citterio et al, , 2013aCitterio et al, , 2013bCorral et al, 1993;González-Sarmiento et al, 2001;Gutnisky et al, 2004;Hermanns et al, 2013;Hishinuma et al, 1999Hishinuma et al, , 2005Hishinuma et al, , 2006Ieiri et al, 1991;Kahara et al, 2012;Kanou et al, 2007;Kim et al, 2008;Kitanaka et al, 2006;Liu et al, 2012;Machiavelli et al, 2010;Moya et al, 2011;Narumi et al, 2011;Niu et al, 2009;Pardo et al, 2008Pardo et al, , 2009Pérez-Centeno et al, 1996;Peteiro-Gonzalez et al, 2010;Raef et al, 2010;Rivolta et al, 2005;Targovnik et al, 1993Targovnik et al, , 1995Targovnik et al, , 2001Targovnik et al, , 2010bTargovnik et al, , 2012van de Graaf et al, 1999). These defects are inherited in an autosomal recessive manner and affected individuals are either homozygous or compound heterozygous for the mutations.…”

Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism

“…The diagnostic criteria for TG defect is: intact iodide trapping, negative perchlorate discharge test and low serum TG levels. To date, one hundred seventeen mutations in the human TG gene have been identified and characterized associated to thyroid diseases: 19 splice site mutations, 23 nonsense mutations, 57 missense mutations, 13 deletions, 4 insertions or duplication and 1 M A N U S C R I P T A C C E P T E D ACCEPTED MANUSCRIPT 7 imperfect DNA inversion (Abdul-Hassan et al, 2013;Agretti et al, 2013;Alzahrani et al, 2006;Baryshev et al, 2004;Brust et al, 2011;Cangul et al, 2014;Caputo et al, 2007aCaputo et al, , 2007bCaron et al, 2003;Citterio et al, 2011Citterio et al, , 2013aCitterio et al, , 2013bCitterio et al, , 2015Corral et al, 1993;Fu et al, 2016;Gonzalez-Sarmiento et al, 2001;Gutnisky et al, 2004;Hermanns et al, 2013;Hishinuma et al, 1999Hishinuma et al, , 2005Hishinuma et al, , 2006Hu et al, 2016;Ieiri et al, 1991;Jiang et al, 2016;Kahara et al, 2012;Kanou et al, 2007;Kim et al, 2008;Kitanaka et al, 2006;Liu et al, 2012;Lof et al, 2016;Machiavelli et al, 2010;Medeiros-Neto et al, 1996;Mittal et al, 2016;Moya et al, 2011;Narumi et al, 2011;Nicholas et al, 2016;Niu et al, 2009;Pardo et al, 2008…”