Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Thyroiddyshormonogenesis 2a

Die Thyroiddyshormonogenesis 2a ist eine autosomal rezessive Erkrankung der Schilddrüsenhormonbildung mit ungenügenden Schilddrüsenhormonwerten und Struma, die durch Mutationen im TPO-Gen verursacht wird.

Gliederung

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

Referenzen:

1.

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

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2.

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

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3.

Couch RM et. al. (1985) Congenital hypothyroidism caused by defective iodide transport.

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4.

Abramowicz MJ et. al. (1992) Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

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5.

Bikker H et. al. (1995) Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.

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6.

Bikker H et. al. (1994) A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.

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7.

Bikker H et. al. (1996) Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene.

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8.

Medeiros-Neto G et. al. (1998) Metastatic thyroid carcinoma arising from congenital goiter due to mutation in the thyroperoxidase gene.

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9.

Pannain S et. al. (1999) Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.

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10.

Bakker B et. al. (2000) Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).

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11.

None (1964) DEFECTIVE COUPLING OF IODOTYROSINE IN FAMILIAL GOITERS; REPORT OF TWO PATIENTS.

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12.

None (1964) GENETIC STUDIES IN FAMILIAL GOITROUS CRETINISM.

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13.

Cavarzere P et. al. (2008) Clinical description of infants with congenital hypothyroidism and iodide organification defects.

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14.

Niepomniszcze H et. al. (1975) Differentiation of two abnormalities in thyroid peroxidase causing organification defect and goitrous hypothyroidism.

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15.

Perez-Cuvit E et. al. (1977) Partial and total iodide organification defect in different sibships in a kindred.

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16.

Pommier J et. al. (1976) Thyroid iodine organification defects: a case with lack of thyroglobulin iodination and a case without any peroxidase activity.

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17.

Anker R et. al. (1992) Tetranucleotide repeat polymorphism at the human thyroid peroxidase (hTPO) locus.

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18.

Mangklabruks A et. al. (1991) Genetic linkage studies of thyroid peroxidase (TPO) gene in families with TPO deficiency.

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19.

Alexander NM et. al. (1970) Thyroxine biosynthesis in human goitrous cretinism.

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20.

Hagen GA et. al. (1971) Peroxidase deficiency in familial goiter with iodide organification defect.

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21.

Niepomniszcze H et. al. (1973) Peroxidase defect in congenital goiter with complete organification block.

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22.

Pommier J et. al. (1974) A defective thyroid peroxidase solubilized from a familial goiter with iodine organification defect.

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23.

None (1983) Congenital goiter with defective iodide transport.

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24.

Medeiros-Neto GA et. al. (1982) Familial thyroid peroxidase defect.

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25.

PARKER RH et. al. (1961) Inheritance of defective organification of iodine in familial goitrous cretinism.

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26.

HADDAD HM et. al. (1959) Defect of the iodinating system in congenital goitrous cretinism: report of a case with biochemical studies.

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