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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Figure 1

RT-PCR analysis in patient 8 (mutation c.2302 + 5 G > A), showing exon skipping and aberrant transcript. a. RT-PCR products were amplified from cDNA of patient 8 and from one healthy individual using primers in exon 23 and in exon 25. The arrow indicates an aberrant sized product in patient 8 in addition to normal sized transcript observed in patient 8 and in healthy control. M marker, P8 patient 8, C control, N negative control. b. The PCR products were purified and sequenced. Sequence chromatograms from normal sized amplicon with normal sequence exon 23-24-25, and from abnormal amplicon, showing absence of exon 24.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172