Pseudodominant inheritance in a family with nonautoimmune hypothyroidism due to biallelic <i><scp>DUOX</scp>2</i> mutations

Abstract

We report a DUOX2 mutation-carrying pedigree presenting pseudodominant inheritance of nonautoimmune hypothyroidism. We speculate that the relatively high frequency of DUOX2 mutations could lead to pseudodominant inheritance in Japan.