Primary Study of FOXE1 Gene Mutation in Patients with Congenital Hypothyroidism and Dysgenesis.

Objective： The present study aimed to screen for FOXEI mutations among Congenital Hypothyroidism (CH) with dysgenesis patients in Shandong province. Methods： Genomic DNA was extracted from peripheral blood leukocytes of 90 unrelated patients with CH and dysgenesis. The exon sequences of FOXE1 were amplified by PCR and directly sequenced. 90 normal subjects were recruited as controls. Results： A novel heterozygous missense variant, c.A3401G (p.Kl134R), and a single nucleotide polymorphism (rs755282859, c.483G>C) in FOXEI were identified in two CH patients with dysgenesis, which was not found in those 90 healthy control subjects. Conclusions： We identified a novel heterozygous missense FOXE1 variant in CH patients with dysgenesis. [ABSTRACT FROM AUTHOR]