Thyroglobulin gene point mutation associated with non-endemic simple goitre

  title={Thyroglobulin gene point mutation associated with non-endemic simple goitre},
  author={Javier Corral and C. Mart{\'i}n and Ron Perez and Isaac Buzo S{\'a}nchez and Rogelio Gonz{\'a}lez-Sarmiento and M. Teresa Mories and Jos{\'e} Manuel Miralles and Jos{\'e} Luis San Mill{\'a}n},
  journal={The Lancet},
Monoallelic Deletion in the 5' Gene as a Cause of Sporadic Nonendemic Simple Goiter Region of the Thyroglobulin
A study of 50 cases diagnosed as having nonendemic simple goiter found 1 case with a large heterozygous deletion within the thyroglobulin gene, and hypothesize that the absence of thyrogLobulin synthesis from the deleted allele may be responsible for a decreased level of thyropin-based mRNA.
Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter.
To the knowledge, this is the first time that a mutation in the thyroglobulin gene has been described in a patient with endemic simple goiter and further confirms the association between the exon 10 mutation and development of goiter.
Molecular pathogenesis of nodular goiter
  • R. Paschke
  • Medicine, Biology
    Langenbeck's Archives of Surgery
  • 2011
The hallmark of thyroid physiology—H2O2 production during hormone synthesis—is very likely the ultimate cause for the frequent mutagenesis in the thyroid gland.
The genetics of euthyroid familial goiter
A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies
Gene sequencing revealed that the patient was homozygous for a donor splice site mutation in intron 30 (IVS30+1G>C), and isolation of RNA obtained from the thyroid gland by fine needle aspiration and sequencing of the TG cDNA confirmed the prediction that exon 30 was skipped, resulting in an in-frame loss of 46 amino acids.
Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism
This study highlights the importance of molecular genetic studies in the definitive diagnosis and classification of CH, and suggests a new clinical testing strategy using next-generation sequencing in all primary CH cases.
Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.
Analysis by both parametric and nonparametric methods indicates that only a very small proportion of familial NMTC is attributable to MNG1, the gene encoding thyroid-stimulating hormone receptor (TSHR), which is located on chromosome 14q, is outside the linked region.


A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.
The presence in exon 4 of a putative donor tyrosine residue involved in thyroid hormone formation provides a coherent explanation to the hypothyroid status of the patient.
Inherited disorders of thyroid metabolism.
This survey indicates that further research is needed to elucidate the precise molecular mechanisms of the working of the iodide pump, the oxidation and iodination and coupling mechanisms.
A study of thyroglobulin and peroxidase activity in the thyroid tissue of patients with non-endemic non-toxic nodular goitre.
Thyroglobulin was purified by precipitation with ammonium sulphate and Sephadex G-200 gel filtration and measured by radioimmunoassay, evaluating the levels of hexoses, hexosamines and sialic acid.
Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA.
The mRNA encoding human thyroglobulin has been cloned and sequenced and shows an interesting homology with the acetylcholinesterase of Torpedo californica.
Structural organization of the 5' region of the human thyroglobulin gene.
The availability of clones covering the region upstream from the thyroglobulin gene will provide the basis for the identification of sequences involved in its transcriptional control by thyroid-stimulating hormone (thyrotropin).
Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.
It is concluded that no gross alteration of the 5' region of Tg gene was present in these patients, and small amounts of functionally active Tg could be synthesized, iodinated, and immediately hydrolized, yielding mostly T3, owing to the intense tissue stimulation by TSH.