Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary : Congenital goiter with hypothyroidism\;Natural mutation congenital hypothyroidism with goitre\;Targovnik_1998_Thyroid_8_291
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.R1530X Arg1530Ter c.4588C>T (p.R1511X Arg1511Ter without 19-amino-acid signal peptide)Skipping of exon 22. Also found in compound heterozygous R296X\/R1530X(R277X\/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.Also found in compound heterozygote R1530X\/Q1796X(R1511X\/Q1777X)
| Title : Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene - Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| Author(s) : Targovnik HM , Souchon PF , Machiavelli GA , Salmon-Musial AS , Mauran PL , Sulmont V , Doco-Fenzy M , Rivolta CM |
| Ref : Clinical Endocrinology (Oxf) , 72 :716 , 2010 |
| Abstract : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| ESTHER : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| PubMedSearch : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| PubMedID: 20447071 |
| Gene_locus related to this paper: human-TG |
| Title : Recurrence of the p.R277X\/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms - Caputo_2007_J.Endocrinol_195_167 |
| Author(s) : Caputo M , Rivolta CM , Gutnisky VJ , Gruneiro-Papendieck L , Chiesa A , Medeiros-Neto G , Gonzalez-Sarmiento R , Targovnik HM |
| Ref : J Endocrinol , 195 :167 , 2007 |
| Abstract : Caputo_2007_J.Endocrinol_195_167 |
| ESTHER : Caputo_2007_J.Endocrinol_195_167 |
| PubMedSearch : Caputo_2007_J.Endocrinol_195_167 |
| PubMedID: 17911408 |
| Gene_locus related to this paper: human-TG |
| Title : Nonsense-associated alternative splicing of the human thyroglobulin gene - Mendive_2005_Mol.Diagn_9_143 |
| Author(s) : Mendive FM , Rivolta CM , Gonzalez-Sarmiento R , Medeiros-Neto G , Targovnik HM |
| Ref : Mol Diagn , 9 :143 , 2005 |
| Abstract : Mendive_2005_Mol.Diagn_9_143 |
| ESTHER : Mendive_2005_Mol.Diagn_9_143 |
| PubMedSearch : Mendive_2005_Mol.Diagn_9_143 |
| PubMedID: 16271015 |
| Title : Two distinct compound heterozygous constellations (R277X\/IVS34-1G>C and R277X\/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis - Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| Author(s) : Gutnisky VJ , Moya CM , Rivolta CM , Domene S , Varela V , Toniolo JV , Medeiros-Neto G , Targovnik HM |
| Ref : J Clinical Endocrinology Metab , 89 :646 , 2004 |
| Abstract : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| ESTHER : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| PubMedSearch : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| PubMedID: 14764776 |
| Gene_locus related to this paper: human-TG |
| Title : Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism - Targovnik_1998_Thyroid_8_291 |
| Author(s) : Targovnik HM , Frechtel GD , Mendive FM , Vono J , Cochaux P , Vassart G , Medeiros-Neto G |
| Ref : Thyroid , 8 :291 , 1998 |
| Abstract : Targovnik_1998_Thyroid_8_291 |
| ESTHER : Targovnik_1998_Thyroid_8_291 |
| PubMedSearch : Targovnik_1998_Thyroid_8_291 |
| PubMedID: 9588493 |
| Title : A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis - Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| Author(s) : Targovnik HM , Vono J , Billerbeck AE , Cerrone GE , Varela V , Mendive F , Wajchenberg BL , Medeiros-Neto G |
| Ref : J Clinical Endocrinology Metab , 80 :3356 , 1995 |
| Abstract : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| ESTHER : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| PubMedSearch : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| PubMedID: 7593451 |
| Gene_locus related to this paper: human-TG |
| Title : A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger - Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| Author(s) : Targovnik HM , Medeiros-Neto G , Varela V , Cochaux P , Wajchenberg BL , Vassart G |
| Ref : J Clinical Endocrinology Metab , 77 :210 , 1993 |
| Abstract : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| ESTHER : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| PubMedSearch : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| PubMedID: 8325944 |
| Gene_locus related to this paper: human-TG |
| Title : Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis - Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| Author(s) : Targovnik H , Propato F , Varela V , Wajchenberg B , Knobel M , D'Abronzo HF , Medeiros-Neto G |
| Ref : J Clinical Endocrinology Metab , 69 :1137 , 1989 |
| Abstract : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| ESTHER : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| PubMedSearch : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| PubMedID: 2584351 |