Sequencing Data for Ten Permanent Congenital Hypothyroidism Subjects

Congenital hypothyroidism (CH) is the most common neonatal metabolic disorder. Although it has been understood to be monogenic disease, the inheritance of CH is still controversial. Here, ten permanent congenital hypothyroidism (PCH) patients were retrospective, carrying digenic loci of pathogenic genes with elevated levels of serum thyroid stimulating hormone and levothyroxine–dependent during follow-up between 2015 and 2019. Total 5 pathogenic genes, TSHR, TG, TPO, DUOX2 and DUOXA2, were simultaneously identified in subjects that involved in the same metabolic pathway-thyroid hormone biosynthesis. There were digenic loci at TSHR and DUOX2 combined in 3 patients, DUOX2 and TG combined in 2 patients, DUOX2 and DUOXA2 combined in 2 patients, TG and DUOXA2 combined in 2 patients, and TG and TPO combined in one patient. Additionally, seven novel variants, TSHR c.679G>A, DUOX2 c.127A>T, c.608-619del and c.959T>C, TG c.2307G>A and c.6759_6765del; and DUOXA2 c.93T>G, were identified in these PCH patients. The data presented here indicated a digenic inheritance of thyroid dyshormonogenes in some CH patients. Our findings could contribute to the existing knowledge on clinical and genetic diagnosis of patients with CH.