Patient 2 (P2) carried a DUOXA1 heterozygous missense mutation p.R56W (a C>T transversion at nucleotide 166 in exon 6, present in Genome Aggregation Database, Figure 1B) that changes the highly conserved arginine at amino acid 56 of DUOXA1 protein (Figure 2B) to tryptophan and resulted in severe congenital hypothyroidism, which was not identified in 100 healthy control Chinese subjects. This evidence concerns the gene DUOXA1 and congenital hypothyroidism.