Supplementary Figures - SLC25A11, a Novel Gene Associated with Carney-Stratakis Syndrome

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Supplementary Figure 1. Multiplex ligation-dependent probe amplification (MLPA) analysis using the SALSA MLPA probemix P226 SDHx on germline DNA from a patient with Carney-Stratakis syndrome. This probemix includes probes targeting the SDHB, SDHC, SDHD, SDHA and SDHAF2 genes. Supplementary Figure 2. SNP-array analysis of chromosome 17 (CytoSNP-850K) from tumor samples of a patient with Carney-Stratakis syndrome. A total of 17,825 single nucleotide polymorphisms (SNPs) were analyzed. The top panel illustrates the B allele frequency (BAF) distribution, while the bottom panel shows the log intensity ratio (LogR ratio). Data are presented for pheochromocytoma (PHEO), paraganglioma (PGL), and gastrointestinal stromal tumor (GIST) samples. Supplementary Figure 3. PureCN analysis of whole-exome sequencing (WES) data from tumor samples did not reveal any copy number variation (CNV) or loss of heterozygosity (LOH) alterations in the SLC25A11 gene. The graph displays results from the paraganglioma sample, highlighting the absence of significant genetic alterations in this region. Supplementary Figure 4. Visualization of reads mapped to the SLC25A11 locus using Integrative Genomics Viewer (IGV) software aimed to identify any coverage gaps that could indicate potential alterations in the whole-exome sequencing data from a patient with Carney-Stratakis syndrome. The results show no significant alterations in the coverage of the SLC25A11 gene.

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