Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

The majority of variants were shown to cause partial to full loss of enzymatic activity of UGGT1: p.Tyr127 ∗ , p.Asp390_Gly397del, p.Phe723Ser, p.Gln1155Arg, and p.Gln1361Profs ∗ 27 cause highly significant loss of activity ( p < 0.001, n = 3), while p.Arg1272His causes significant loss of activity ( p < 0.05, n = 3).

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