Genetic insights into congenital hypothyroidism in three Iranian Azeri families with consanguineous marriage: the role of novel and recurrent TPO gene variations

Abstract This study aims to examine TPO gene mutations in congenital hypothyroidism (CH) within consanguineous Iranian Azeri families. Three families were subjected to next-generation sequencing and were subsequently validated using Sanger sequencing. The investigation revealed three homozygous pathogenic variants, one of which was identified as a novel variation, occurring within the TPO gene. These findings emphasize the notable prevalence of TPO gene mutations in Iranian Azeri affected by CH, thus establishing the pathogenic nature of the newly discovered variation in the studied patients.