PELLIZAS CLAUDIA GABRIELA
Artículos
Título:
Congenital Hypothyroidism with Goiter Caused by New Mutations in the Thyroglobulin Gene
Autor/es:
CAPUTTO M; RIVOLTA C; ESPERANTE S; GRUÑEIRO-PAPENDIECK L; CHIESA A; PELLIZAS CG; GONZÀLEZ SARMIENTO R; TARGOVNIK HM
Editorial:
Society for Endocrinology
Referencias:
Año: 2007 vol. 67 p. 351 - 351
Resumen:
o n te x t Thyroid dyshormonogenesis is associated with mutations
in the thyroglobulin (TG) gene and characterized by normal organifi-
cation of iodide and low serum TG. These mutations give rise to
congenital goitrous hypothyroidism, transmitted in an autosomal
recessive mode.
O b j e c ti v e s The aim of this study was to identify new mutations
in the TG gene in an attempt to increase the understanding of the
molecular basis of this disorder. Three unrelated patients with
marked impairment of TG synthesis were studied.
Met h o d s The promoter and the complete coding regions of the TG
gene, along with the flanking intronic regions, were analysed by
direct DNA sequencing.
Res u l t s Four different inactivating TG mutations, three novel
mutations (c.548G>A, p.C164Y; c.759–760insA, p.L234fsX237;
c.6701C>A, p.A2215D) and one previously identified mutation
(c.886C>T, p.R277X) were identified. Multiple sequence alignment
study revealed that the