A New Point Mutation (M313T) in the Thyroid Hormone Receptor Beta Gene in a Patient with Resistance to Thyroid Hormone

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

THYROID

MARY ANN LIEBERT INC

Lugar: New York; Año: 1997 vol. 7 p. 43 - 44

1050-7256

Sequence analysis of the TR/3 gene from a patient with the 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.