Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population.

Congenital hypothyroidism (CH), attributable to thyroid dysgenesis (TD), has an unusually high prevalence in Mexican population but the causes are unknown. NKX2-1 , as a candidate gene, was subjected to automated Sanger sequencing in 122 unrelated Mexican patients with CH/TD. Although this study includes the largest number of TD-related CH patients in whom NKX2-1 has been analyzed, no pathogenic variants were detected; only three benign polymorphic changes were identified. These results suggest that NKX2-1 is not a major contributor to the etiology of CH or its high prevalence in Mexicans. Our work identifies misannotations of NKX2-1 variants in three previous published reports.