Congenital Hypothyroidism with Goiter Caused by New Mutations in the Thyroglobulin Gene

CAPUTTO M; RIVOLTA C; ESPERANTE S; GRUÑEIRO-PAPENDIECK L; CHIESA A; PELLIZAS CG; GONZÀLEZ SARMIENTO R; TARGOVNIK HM

Society for Endocrinology

Año: 2007 vol. 67 p. 351 - 351

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