A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism
Journal Article
·
· Journal of Clinical Endocrinology and Metabolism
- Academic Medical Center, Amsterdam (Netherlands)
In this study, the authors present the molecular basis of a total iodide organification defect causing severe congenital hypothyroidism. In the thyroid gland of the patient, thyroid peroxidase (TPO) activity and the iodination degree of thyroglobulin were below detection limits, and no TPO messenger ribonucleic acid was detectable by Northern blot analysis. Denaturing gradient gel electrophoretic analysis of the TPO gene of the patient revealed a homozygous mutation in exon 2. Sequence analysis showed the presence of a 20-basepair duplication, 47 basepairs down-stream of the ATG start codon. This duplication generates a frame shift, resulting in a termination signal in exon 3, compatible with the complete absence of TPO. Both parents of the patient are heterozygous for the same duplication, confirming the recessive mode of inheritance of the mutation. 32 refs., 4 figs.
- OSTI ID:
- 54491
- Journal Information:
- Journal of Clinical Endocrinology and Metabolism, Journal Name: Journal of Clinical Endocrinology and Metabolism Journal Issue: 1 Vol. 79; ISSN JCEMAZ; ISSN 0021-972X
- Country of Publication:
- United States
- Language:
- English
Similar Records
Congenital hypothyroidism: diagnostic scintigraphic evaluation of an organification defect
Identification of three new mutations in the NADH-cytochrome b5 reductase gene responsible for recessive congenital methemoglobinemia type II
Partial duplication and point mutations of the ornithine carbamoyl transferase (OCT) gene in congenital hyperammonaemia
Journal Article
·
Wed Jun 01 00:00:00 EDT 1988
· Clin. Nucl. Med.; (United States)
·
OSTI ID:6837367
Identification of three new mutations in the NADH-cytochrome b5 reductase gene responsible for recessive congenital methemoglobinemia type II
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:134264
Partial duplication and point mutations of the ornithine carbamoyl transferase (OCT) gene in congenital hyperammonaemia
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:134210