PMC10099977_01
Clinical data, CNVs of VGCC genes, and gene expression results. (a) Summary of the clinical data from four patients with SCZ with variants in VGCC genes. (b) The 54-kb deletion in patient 1 spans exons 46-47 of the CACNA1C gene (transcript NM_000719.6), corresponding to the C-terminal end of CACNA1C. (c) Reduced mRNA expression level of CACNA1C in patient 1. The box plot represents the distribution of gene expression levels of CACNA1C mRNA; each dot represents the relative expression of samples including patient 1, 29 patients with SCZ without CACNA1C deletion, and 28 healthy controls, calculated using the 2-DeltaDeltaCt method. (Supplementary M3). (d) The 136-kb deletion in patient 3 spans the entire CACNA1H gene. (e) The 2.6-Mb deletion in patient 4 spans the entire CACNA2D1 gene. CNVs, copy number variants; CT, computed tomography; EEG, electroencephalogram; IQ, intelligence quotient; N/A, not available; SCZ, schizophrenia; VGCC, Voltage-gated calcium channel; WAIS-III, Wechsler Adult Intelligence Scale-III.
PCN-77-57-g001.jpg
PMC10099977_04_PCN-77-57-g001.jpg
pcn13494-fig-0001
Patient 4 was a 51-year-old female with de novo CACNA2D1 deletion (Fig. 1e).
PMC10099977_02
PMC10099977_03
Clinical data, CNVs of VGCC genes, and gene expression results. (a) Summary of the clinical data from four patients with SCZ with variants in VGCC genes. (b) The 54-kb deletion in patient 1 spans exons 46-47 of the CACNA1C gene (transcript NM_000719.6), corresponding to the C-terminal end of CACNA1C. (c) Reduced mRNA expression level of CACNA1C in patient 1. The box plot represents the distribution of gene expression levels of CACNA1C mRNA; each dot represents the relative expression of samples including patient 1, 29 patients with SCZ without CACNA1C deletion, and 28 healthy controls, calculated using the 2-DeltaDeltaCt method. (Supplementary M3). (d) The 136-kb deletion in patient 3 spans the entire CACNA1H gene. (e) The 2.6-Mb deletion in patient 4 spans the entire CACNA2D1 gene. CNVs, copy number variants; CT, computed tomography; EEG, electroencephalogram; IQ, intelligence quotient; N/A, not available; SCZ, schizophrenia; VGCC, Voltage-gated calcium channel; WAIS-III, Wechsler Adult Intelligence Scale-III.
PCN-77-57-g001.jpg
PMC10099977_04_PCN-77-57-g001.jpg
pcn13494-fig-0001
Patient 4 was a 51-year-old female with de novo CACNA2D1 deletion (Fig. 1e).
PMC10099977_04
Clinical data, CNVs of VGCC genes, and gene expression results. (a) Summary of the clinical data from four patients with SCZ with variants in VGCC genes. (b) The 54-kb deletion in patient 1 spans exons 46-47 of the CACNA1C gene (transcript NM_000719.6), corresponding to the C-terminal end of CACNA1C. (c) Reduced mRNA expression level of CACNA1C in patient 1. The box plot represents the distribution of gene expression levels of CACNA1C mRNA; each dot represents the relative expression of samples including patient 1, 29 patients with SCZ without CACNA1C deletion, and 28 healthy controls, calculated using the 2-DeltaDeltaCt method. (Supplementary M3). (d) The 136-kb deletion in patient 3 spans the entire CACNA1H gene. (e) The 2.6-Mb deletion in patient 4 spans the entire CACNA2D1 gene. CNVs, copy number variants; CT, computed tomography; EEG, electroencephalogram; IQ, intelligence quotient; N/A, not available; SCZ, schizophrenia; VGCC, Voltage-gated calcium channel; WAIS-III, Wechsler Adult Intelligence Scale-III.
PCN-77-57-g001.jpg
PMC10099977_04_PCN-77-57-g001.jpg
pcn13494-fig-0001
Patient 4 was a 51-year-old female with de novo CACNA2D1 deletion (Fig. 1e).