Article Figures & Data
Figures
- Figure 1 CNV Deletions in ITPR1 and PPP2R2B
Analysis and visualization was performed using NxClinical software. (A) CNV deletion found in patients 1 and 2 (father and daughter). The deletion, located on chromosome 3p26.1, includes ITPR1 (exons 1–41) and SUMF1 (exons 1 and 2) and has a minimum size of 260.8 kb (108 SNP probes). (B) CNV deletion found in patient 3. The deletion is located on 5q32 with a minimum size of 63.6 kb (21 SNP probes), which includes the first 2 exons of PPP2R2B. The red deleted regions show homozygosity and low copy number. The upper plot shows low values for log R ratio (<0), indicating a CNV deletion. In the lower plot, the B allele frequency is not clustering around 0.5 due to the deletion of 1 copy of the corresponding gene, fitting a heterozygous pattern. Each SNP is shown as a dot. CNV = copy number variant; SNP = single nucleotide polymorphism.
- Figure 2 Analysis of ITPR1, SUMF1, and SETMAR CNV Deletions From Previous Studies and the Present Study
,The gene structures of SETMAR, SUMF1, and ITPR1 are shown at the top. Black lines below indicate previously reported deletions. Dotted black lines indicate that only the deleted genes and not the location of the breakpoints are reported for the CNV deletions identified in the respective study. The red line shows the deleted region in this study. CNV = copy number variant.
- Figure 3 Schematic Presentation of PPP2R2B Transcripts Expressed in the Cerebellum and the Location of the CNV Deletion Presented in This Study
The red box indicates the region deleted in our patient. This CNV deletion is located at the telomeric side in an intergenic region and at the centromeric side in intron 1 of ENST00000336640.10 and intron 2 of ENST00000504198.5 and ENST00000394413.7. The CAG repeat expansion known to cause SCA12 is upstream of the first exon of ENST00000530902.5 (NR_073526).24 ENST00000504198.5 has the highest expression in the human cerebellum. CNV = copy number variant.
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