Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyroid dyshormonogenesis 2a

Thyroid dyshormonogenesis 2a is an autosomal recessive disorder of thyroid hormone production characterized by insufficient plasma hormone levels and goiter. It is caused by mutations of the TPO gene.

Systematic

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

References:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
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.

[^]
7.

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

[^]
8.

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

[^]
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.

[^]
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).

[^]
11.

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

[^]
12.

None (1964) GENETIC STUDIES IN FAMILIAL GOITROUS CRETINISM.

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
21.

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

[^]
22.

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

[^]
23.

None (1983) Congenital goiter with defective iodide transport.

[^]
24.

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

[^]
25.

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

[^]
26.

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

[^]
27.

OMIM.ORG article

Omim 274500 [^]
Update: April 29, 2019