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Thyroid dyshormonogenesis 3

Thyroid dyshormonogenesis 3 is an autosomal recessive disorder of thyroid hormone production characterized by insufficient plasma hormone levels and goiter. It is caused by mutations of the TG gene.

Systematic

Thyroid dyshormonogenesis
Pendred syndrome
Thyroid dyshormonogenesis 1
Thyroid dyshormonogenesis 2a
Thyroid dyshormonogenesis 3
TG
Thyroid dyshormonogenesis 4
Thyroid dyshormonogenesis 5
Thyroid dyshormonogenesis 6

References:

1.

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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2.

Falconer IR et al. (1970) Studies on the congenitally goitrous sheep. Iodoproteins of the goitre.

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3.

None (1972) A goitrous subject with structural abnormality of thyroglobulin.

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4.

Lissitzky S et al. (1967) Congenital goiter with hypothyroidism and iodo-serum albumin replacing thyroglobulin.

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5.

Lissitzky S et al. (1975) Defective thyroglobulin export as a cause of congenital goitre.

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6.

Van Voorthuizen WF et al. (1978) Abnormal cellular localization of thyroglobulin mRNA associated with hereditary congenital goiter and thyroglobulin deficiency.

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7.

MICHEL R et al. (1964) THYROIDAL IODOPROTEINS IN PATIENTS WITH GOITROUS HYPOTHYROIDISM.

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8.

Medeiros-Neto G et al. (1997) Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis.

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9.

Yoshida S et al. (1996) A variant of adenomatous goiter with characteristic histology and possible hereditary thyroglobulin abnormality.

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10.

Cooper DS et al. (1981) Congenital goiter and the development of metastatic follicular carcinoma with evidence for a leak of nonhormonal iodide: clinical, pathological, kinetic, and biochemical studies and a review of the literature.

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11.

Lever EG et al. (1983) Inherited disorders of thyroid metabolism.

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12.

None (1987) Merging autosomal dominance and recessivity.

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13.

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

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14.

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

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15.

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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16.

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

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17.

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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18.

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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19.

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

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20.

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

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21.

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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22.

OMIM.ORG article

Omim 274700 external link
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