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A new point mutation (M313T) in the thyroid hormone receptor beta gene in a patient with resistance to thyroid
M di Fulvio1, A E Chiesa, S E Baranzini
1Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Argentina.
Thyroid : Official Journal of the American Thyroid Association
|February 1, 1997
Abstract:
Sequence analysis of the TR beta 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.