A NEW POINT MUTATION (M313T) IN THE THYROID-HORMONE RECEPTOR-BETA GENE IN A PATIENT WITH RESISTANCE TO THYROID-HORMONE

Authors
DIFULVIO M CHIESA AE BARANZINI SE GRUNIEROPAPENDIECK L MASINIREPISO AM TARGOVNIK HM
Citation
M. Difulvio et al., A NEW POINT MUTATION (M313T) IN THE THYROID-HORMONE RECEPTOR-BETA GENE IN A PATIENT WITH RESISTANCE TO THYROID-HORMONE, Thyroid, 7(1), 1997, pp. 43-44
Citations number
5
Categorie Soggetti
Endocrynology & Metabolism
Journal title
Thyroid → ACNP
ISSN journal
10507256
Volume
7
Issue
1
Year of publication
1997
Pages
43 - 44
Database
ISI
SICI code
1050-7256(1997)7:1<43:ANPM(I>2.0.ZU;2-O
Abstract
Sequence analysis of the TRP gene from a patient with the syndrome of resistance to thyroid hormone revealed a novel missense mutation in ex on 9, changing thymidine in position 1123 to cytosine. The correspondi ng amino acid alteration is a substitution of a methionine (ATG) for a threonine (ACG) at codon 313 being the patient heterozygous for the m utation. In contrast, his parents had only the wild-type sequence, sug gesting a de novo mutational event.