Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyroglobulin

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.

Genetests:

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

Related Diseases:

Thyroid dyshormonogenesis 3
TG
Susceptibility to autoimmune thyroid disease 3
TG
ZFAT

References:

1.

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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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

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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8.

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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9.

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

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10.

None (1987) Merging autosomal dominance and recessivity.

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11.

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

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12.

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

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13.

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

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14.

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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15.

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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16.

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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17.

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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18.

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

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19.

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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20.

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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21.

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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22.

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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23.

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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24.

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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25.

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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26.

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

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27.

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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28.

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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29.

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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30.

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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31.

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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32.

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

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33.

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

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34.

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

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35.

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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36.

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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37.

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

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38.

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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39.

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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40.

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

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Update: Sept. 26, 2018