Figure 2

Molecular characterization of the patients by SLC2A10 sequencing on genomic DNA, obtained from whole peripheral blood of the patients, after written informed consent given by the parents. A) Patient 1 genotyping: the c.685C>T transition and the c.756C>A transversion, both in exon 2 and leading to p.Arg229X and the p.Cys252X nonsense mutations, respectively B) Chromatograms of mutations identified in Patient 2: the recurrent c.1334delG microdeletion in exon 3 and the novel c.691C>T transition in exon 2.