Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism

Our study indicated that the prevalence of GLIS3 variations was 0.3% among studied Chinese CH patients. Multiple variations in one or more CH associated genes can be found in one patient. We found a novel GLIS3 variation c.2159G > A (p.R720Q), thereby expanding the variation spectrum of the gene.