Functional impact of a novel intronic TG variant in congenital goiter and thyroid dyshormonogenesis

The authors investigate the pathogenicity of a novel homozygous intronic variant in the TG gene, which is linked to congenital goiter and thyroid dyshormonogenesis. Through cDNA sequencing, they demonstrate that this variant leads to aberrant splicing and a nonfunctional TG protein, contributing to primary congenital hypothyroidism. This study highlights the significance of early genetic diagnosis for effective management and prevention of recurrence in affected families.