Patient THD-10 was heterozygous for c.514-49G>A in DUOX2, classified as likely benign, but also carried an intronic TG variant (c.5975+5G>C) that was moderately predicted to cause a donor splice site loss (SpliceAI Δ score = 0.76) and could explain the patient’s mild permanent hypothyroidism diagnosis (Table 1). Here, DUOX2 is linked to hypothyroidism.