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The TG gene encodes thyroglobulin, a tyrosine-rich iodine-storage protein in thyroid follicles. Mutations cause autosomal recessive thyroid dyshormonogenesis 3. Also polymorphisms are associated with autoimmune thyroid diseases.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Thyroid dyshormonogenesis 3
Susceptibility to autoimmune thyroid disease 3



Targovnik HM et al. (1998) Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism.

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Malthiéry Y et al. (1987) Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA.

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Kok K et al. () Autosomal recessive inheritance of goiter in Dutch goats.

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Beamer WG et al. (1987) Inherited congenital goiter in mice.

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Bergé-Lefranc JL et al. (1985) Localization of the thyroglobulin gene by in situ hybridization to human chromosomes.

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Brocas H et al. (1985) The thyroglobulin gene resides on chromosome 8 in man and on chromosome 7 in the rat.

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Avvedimento VE et al. (1985) Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization.

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Targovnik HM et al. (1995) A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis.

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Corral J et al. (1993) Thyroglobulin gene point mutation associated with non-endemic simple goitre.

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Targovnik HM et al. (1993) A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.

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Collins JE et al. (2004) Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom.

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Kim PS et al. (1998) A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases.

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Hishinuma A et al. (1999) Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.

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van de Graaf SA et al. (1999) A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.

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Kim PS et al. (2000) A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat.

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Targovnik HM et al. (2001) Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene.

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Caron P et al. (2003) Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.

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Rivolta CM et al. (2005) A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.

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Hsiao JY et al. (2007) Association between a C/T polymorphism in exon 33 of the thyroglobulin gene is associated with relapse of Graves' hyperthyroidism after antithyroid withdrawal in Taiwanese.

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Stefan M et al. (2011) Novel variant of thyroglobulin promoter triggers thyroid autoimmunity through an epigenetic interferon alpha-modulated mechanism.

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Baas F et al. (1986) The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb.

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Ban Y et al. (2003) Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease.

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Park SM et al. (2005) Genetics of congenital hypothyroidism.

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Lazar V et al. (1999) Expression of the Na+/I- symporter gene in human thyroid tumors: a comparison study with other thyroid-specific genes.

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Baas F et al. (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.

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Gutnisky VJ et al. (2004) 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.

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Vono-Toniolo J et al. (2005) Naturally occurring mutations in the thyroglobulin gene.

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Hishinuma A et al. (2005) High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations.

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Alzahrani AS et al. (2006) Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene.

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Kitanaka S et al. (2006) A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.

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Hishinuma A et al. (2006) Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.

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Kanou Y et al. (2007) Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.

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Ieiri T et al. (1991) A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.

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Targovnik H et al. (1989) Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.

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None (1987) Merging autosomal dominance and recessivity.

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Adkison LR et al. (1990) Mutant gene-induced disorders of structure, function and thyroglobulin synthesis in congenital goitre (cog/cog) in mice.

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Taylor BA et al. (1987) The congenital goiter mutation is linked to the thyroglobulin gene in the mouse.

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Baas F et al. (1985) The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24.

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Ricketts MH et al. (1985) Defective splicing of thyroglobulin gene transcripts in the congenital goitre of the Afrikander cattle.

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Ricketts MH et al. (1987) A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts.

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Orphanet article

Orphanet ID 168347 external link

NCBI article

NCBI 7038 external link

OMIM.ORG article

Omim 188450 external link

Wikipedia article

Wikipedia EN (Thyroglobulin) external link
Update: Aug. 14, 2020
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