A new point mutation (M313T) in the thyroid hormone receptor beta gene in a patient with resistance to thyroid hormone.
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.
di Fulvio
M
M
Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Argentina.
Chiesa
A E
AE
Baranzini
S E
SE
Gruñiero-Papendieck
L
L
Masini-Repiso
A M
AM
Targovnik
H M
HM
D002648:Child; D004247:DNA / Q000032:analysis / Q000235:genetics; D005091:Exons; D006801:Humans; D008297:Male; D008715:Methionine / Q000378:metabolism; D017354:Point Mutation / Q000235:genetics / Q000502:physiology*; D016133:Polymerase Chain Reaction; D016372:RNA, Antisense / Q000235:genetics; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D013912:Threonine / Q000378:metabolism; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics*
D016372:RNA, Antisense; D011988:Receptors, Thyroid Hormone; D013912:Threonine; D004247:DNA; D008715:Methionine