FAH and tyrosinemia type I: For patient DBS-6 with Tyrosinemia type I, the homozygote mutation c.554-1G > T in FAH was easily confirmed, and the pathogenic nonsense homozygote c.2056C > T (p.Gln686Ter) mutation in DUOX2 (read depth of 6x), known to cause thyroid dyshormonogenesis type 6 and congenital hypothyroidism21, was also identified.