Figure 2

Diminished levels of Gigaxonin corroborate with identification of mutations in the GAN locus. A Immunodetection of Gigaxonin in new patient’s lymphoblast cell lines. (S1) and (S2) are unaffected sisters of patient F24. B Quantification of Gigaxonin in patients and their relatives, using Tubulin or GAPDH as internal controls. Individual level of Gigaxonin is compared with the range of wild type Gigaxonin (left panel) and mutated Gigaxonin in known GAN patients (as presented in Figure 1, right panel). The red lines correspond to the maximum individual mean value from patients. Please note that Gigaxonin abundance was so low (undetectable) for F24 and F30 that it was detected as significantly different from mutated Gigaxonin. N = 3-5 experiments. (T-test, *, p < 0,05; **, p < 0,01, ***, p < 0,001 and ***, p < 0,0001; error bars represent standard deviation). C Schematic representation of Gigaxonin and the mutations identified in known patients (black) and new patients (red). D Electropherograms representing the point mutations identified by systematic screening of the 11 exons of the GAN gene. E Illustration and F results of the CGH data, that revealed homozygous genomic deletion encompassing exons 10 and 11 in patient F24 and heterozygosity for sister 1.