Figure 1.

Identification of a recurrent SLC37A4 mutation in four unrelated families

(A) Pedigrees showing segregation of the SLC37A4 c.1267C>T (p.Arg423^∗) mutation in seven affected individuals from four unrelated families.

(B) LC-MS of serum transferrin from control and P7 serum with deconvoluted masses of intact serum TF from full scans showing the appearance of several peaks corresponding to distinctive peaks containing hybrid N-glycans.

(C) Schematic of human SLC37A4 showing the p.Arg423^∗ localizing to the cytoplasmic tail (UniProt: O43826-1).