Figure 3

Partial CASK deletions and duplications. A. MLPA results on DNA isolated from leukocytes of patients 2, 5, 6, and 7 and on lymphoblastoid cell-derived DNA of patient 8. Bars in upper and lower histograms represent MLPA probes. Peak area histogram (upper histogram): blue bars represent the mean probe signals with standard deviations for three reference DNAs, except for patient 7 (one reference DNA); green bars: probe signals for patient DNA. Numbers below the bars indicate the amplicon size (bp) of each MLPA probe. Lower histogram: the bar for each probe represents the probe signal for patient DNA as percentage of the mean signal for the reference DNAs. Light blue bars represent percentages ranging from 75 to 125% (red dotted lines); deviations lower and higher than 75 and 125% are represented by dark blue bars. Deleted/duplicated CASK exons are indicated below the dark blue bars. B. Ideogram of the X chromosome is shown on the top. The Xp11.4 and the Xq25 regions are indicated by a red and a green bar, respectively. The CASK exon-intron structure is enlarged below: vertical lines represent exons and horizontal lines introns; selected exons are numbered. The two fosmid clones used to confirm somatic mosaicism of the CASK exon 3–9 deletion in patient 7 are indicated by red bars and names are given. BAC RP11-103K12 (Xq25) (indicated below the ideogram) was used as control probe. C. FISH with fosmid G248P83076E8 on a metaphase spread of patient 7 revealed a signal (red) on the wild-type (WT) X chromosome (arrow pointing to the normal X in the right picture), while the same probe did not hybridize on the X chromosome in another metaphase (arrow pointing to the del(X) in the left picture; see online Additional file 1: Table S1). RP11-103K12 gave a green signal in both metaphases.