Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C&gt;T, in the <i>TPO</i> gene in a cohort of Malaysian–Chinese with thyroid dyshormonogenesis

Abstract

The c.2268dup mutation was detected in approximately one-third of the Malaysian-Chinese patients with thyroid dyshormonogenesis. The detection of the novel c.670_672del and c.1186C>T alterations expand the mutation spectrum of TPO associated with thyroid dyshormonogenesis.