Additional file 2: of Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects

Confirmation of DTNA deletion in the patient using quantitative real-time PCR analysis (qPCR). Description of data: qPCR data revealed one copy of the DTNA gene (18q12.1) in a patient DNA sample as compared to two copies of the gene in a normal control DNA sample. The data was normalized against GAPDH gene using the comparative ΔΔCt method. RQ (relative quantity) value is presented along the vertical axis. Each reaction was reproduced (repeated) in triplicate for both DNA samples (patient and control) and both genes (DTNA and GAPDH). The series of four ten-fold dilutions were included into analysis with the starting amount of DNA ~ 1 ng. The results obtained for one of the dilutions are depicted in the figure; for the rest dilutions, the ratio of quantity values between test and control samples was the same. (PNG 8 kb

List of pathogenic, likely pathogenic and variants of unknown significance in patients with RCM.

<p>List of pathogenic, likely pathogenic and variants of unknown significance in patients with RCM.</p

Interaction network of proteins harboring RCM-associated genetic variants.

<p>For proteins with RCM-associated pathogenic and likely pathogenic variants (red boxed), variants of unknown significance (orange boxes) and rare SNPs (yellow boxes) a closely interconnected network was generated by manual curation of scientific literature. The interlinking proteins are shown as gray boxes. Green arrows, red lines with cross bars, green lines with filled circles, and blue lines indicate activation, inhibition, modulation of activity, and direct physical interactions, respectively.</p

Genetic variants, identified in patients with RCM.

<p>(a) Overall yield of genotype-positive (pathogenic and likely pathogenic) variants and variants of unknown significance according to ACMG classification. (b) Genes where pathogenic, likely pathogenic variants and variants of unknown significance were detected. Blue corresponds to the genes encoding for sarcomeric proteins, red—to the genes encoding for cytoskeletal proteins, green—to ion channels and purple to the other genes. (c) Combination of pathogenic variants, likely pathogenic variants and variants of unknown significance in patients with RCMP.</p