Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Thyroiddyshormonogenesis 3

Die Thyroiddyshormonogenesis 3 ist eine autosomal rezessive Erkrankung der Schilddrüsenhormonbildung mit ungenügenden Schilddrüsenhormonwerten und Struma, die durch Mutationen im TG-Gen verursacht wird.

Gliederung

Thyroiddyshormonogenesis
Pendred-Syndrom
Thyroiddyshormonogenesis 1
Thyroiddyshormonogenesis 2a
Thyroiddyshormonogenesis 3
TG
Thyroiddyshormonogenesis 4
Thyroiddyshormonogenesis 5
Thyroiddyshormonogenesis 6

Referenzen:

1.

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

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2.

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

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3.

None (1987) Merging autosomal dominance and recessivity.

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4.

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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5.

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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6.

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

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7.

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

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8.

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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9.

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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10.

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

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11.

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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12.

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

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13.

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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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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