A single nucleotide deletion in position 588 (G588) in the GDP-fucose transporter gene of the new patient.

(A) Chromatograms show a partial sequence for the GDP-fucose transporter gene from a healthy donor, the LADII patient, and both parents. Note that G588 is absent in the patient, whereas both parents are heterozygotes in this position (overlaid sequence). (B) Partial primary sequence of the gene and the predicted protein region in which the deletion is found. A shift in the open-reading frame alters the protein sequence after Ser195 (arrow), as shown in the schematic representation of the predicted structure of the transporter. This frameshift creates a premature stop codon 34 residues after the mutation (shown in red in the right scheme).