A new point mutation (M313T) in the thyroid hormone receptor  gene in a patient with resistance to thyroid hormone

DI FULVIO MAURICIO, CHIESA ANA E, BARANZINI SERGIO E, GRUÑIERO-PAPENDIECK LAURA, MASINI-REPISO ANA M, TARGOVNIK HÉCTOR M

THYROID

Mary Ann Liebert, Inc

Lugar: New York, U.S.A.; Año: 1997 vol. 7 p. 43 - 43

1050-7256

font size="2"> Sequence analysis of the thyroid hormone receptor (TR) beta gene from a patient with the clinical characteristics of a syndrome of resistance to thyroid hormone revealed a novel missense mutation in exon 9, changing thymidine in position 1123 to cytosine. The corresponding amino acid alteration is a substitution of a methionine (ATG) for a threonine (ACG) at codon 313 being the patient heterozygous for the mutation. In contrast, his parents had only the wild-type sequence, suggesting a de novo mutational event.