Article
A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.
The Journal of clinical endocrinology and metabolism - 1 Jun 2005
Rivolta Carina M, Moya Christian M, Gutnisky Viviana J, Varela Viviana, Miralles-García José M, González-Sarmiento Rogelio, Targovnik Héctor M
Abstract excerpt
Identification of thyroglobulin (TG) gene mutations may provide insight into the structure-function relationship. In this study, we have performed molecular studies in a patient with congenital goiter, hypothyroidism, and impairment of TG synthesis. Genomic DNA sequencing revealed a homozygous c.886C-->T mutation in exon 7, resulting in a premature stop codon at amino acid 277 (p.R277X). The same nonsense...
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