The screening for mutations in the thyroglobulin cDNA from six patients with congenital hypothyroidism

Graaf, S. A. R. Van De; Cammenga, Marianne; Ponne, Nico J.; Veenboer, G. J. M.; Gons, M. H.; Orgiazzi, Jacques; Vijlder, J. J. M. De; Ris‐Stalpers, Carrie

doi:10.1016/s0300-9084(99)80091-1

Cited by 33 publications

(18 citation statements)

References 30 publications

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“…The causes included complete iodideorganification defects with mutations in the thyroid peroxidase gene 27 ; Pendred's syndrome or mutations in the PDS gene, which encodes the iodide transporter pendrin 30 ; and biochemical indicators of thyroglobulin-synthesis defects or mutations in the thyroglobulin gene. 31 Patients who had transient congenital hypothyroidism of known cause were also excluded. The causes included maternal thyroid autoimmune disease, maternal use of antithyroid drugs during pregnancy, an excess or shortage of iodine, and premature birth.…”

Section: Selection Of Patientsmentioning

confidence: 99%

Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism

Moreno¹,

Bikker²,

Kempers³

et al. 2002

N Engl J Med

438

331

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Section: Selection Of Patientsmentioning

confidence: 99%

Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism

Moreno¹,

Bikker²,

Kempers³

et al. 2002

N Engl J Med

438

331

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“…In practice, the definition 'TG synthesis defect' is a clinical-physiological one. It does not cover defects in the gene coding for TG, but includes defects in the whole process of TG synthesis (29).…”

Section: Thyroglobulin Synthesis Defectsmentioning

confidence: 99%

Primary congenital hypothyroidism: defects in iodine pathways

Vijlder

2003

European Journal of Endocrinology

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The thyroid gland is the only source of thyroid hormone production. Thyroid hormone is essential for growth and development, and is of special importance for the development of the central nervous system. It was for that reason that neonatal screening on congenital hypothyroidism was introduced and is now performed in many countries. Defects in thyroid hormone production are caused by several disorders in hormone synthesis and in the development of the thyroid gland (primary hypothyroidism) or of the pituitary gland and hypothalamus (central hypothyroidism). This paper describes defects in the synthesis of thyroid hormone caused by disorders in the synthesis or iodination of thyroglobulin, leakage of iodinated proteins by a stimulated thyroid gland and the presence of abnormal iodoproteins, mainly iodinated albumin, in the thyroid gland and blood circulation. Circulating thyroglobulin and abnormal iodoproteins, as well as the breakdown products of these iodoproteins excreted in urine, are used for etiological diagnosis and classification. Moreover, our finding of an enzyme that catalyses the dehalogenation of iodotyrosines, which is important for iodine recycling and required for economical use of iodine, is also referred to.

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“…Earlier literature reported that mutations in several genes such as the sodium iodide symporter [1,2], thyroglobulin [3,4], pendrin [5,6], dual oxidase 2 [7,8], dual oxidase maturation factor 1 [9], dual oxidase maturation factor 2 [7,9], TPO [10,11] are involved in the disruption of thyroid hormone biosynthesis. Among these genes, mutations of the TPO gene, which causes a total iodide organification defect (TIOD), was reported to be the most severe and common condition [12].…”

mentioning

confidence: 99%

Genetic analysis of thyroid peroxidase (<i>TPO</i>) gene in patients whose hypothyroidism was found in adulthood in West Bengal, India

Balmiki

Bankura

Guria³

et al. 2014

Endocr J

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The screening for mutations in the thyroglobulin cDNA from six patients with congenital hypothyroidism

Cited by 33 publications

References 30 publications

Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism

Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism

Primary congenital hypothyroidism: defects in iodine pathways

Genetic analysis of thyroid peroxidase (<i>TPO</i>) gene in patients whose hypothyroidism was found in adulthood in West Bengal, India

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