Table 3 Summary of cases diagnosed by genome sequencing and RNAseq
From: Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Index | Primary symptom | Diagnosis | Genomic variant type | Inheritance | Splicing abnormality (tissue) | Variant Classification |
|---|---|---|---|---|---|---|
1 | Neurologic | SEPSECS NM_016955.3:c.808dup; NP_058651.3:p.(Ala270GlyfsTer5) | Frameshift deletion | Paternal | No splice change (blood) | Pathogenic |
SEPSECS NM_016955.3:c.846 G>A; NP_058651.3:p.(Leu282=) | Synonymous SNV | Maternal | Exon skipping (blood) | Likely pathogenic | ||
2 | Musculoskeletal | LMNA NC_000001.11(NM_170707.3):c.1157+23_1158-45delAGGTGCTGGCAGTGTCCTCTGGCCGG; NP_733821.1:p.? | Deep intronic SV | De novo | Intron retention (blood, fibroblast) | Likely pathogenic |
3 | Neurologic | SLC25A46 NC_000005.9(NM_138773.3):c.385-852_385-739del; NP_620128.1:p.? | Deep intronic SV | Paternal | Intron retention and pseudoexon creation (blood) | Likely pathogenic |
SLC25A46 NM_138773.3:c.992T>C; NP_620128.1:p.(Leu331Pro) | Missense SNV | Maternal | No splice change (blood) | Likely pathogenic | ||
4 | Musculoskeletal | DMD NG_012232.1(NM_004006.2):c.9974+175T>A; NP_003997.1:p.? | Deep intronic SNV | De novo | Pseudoexon creation (muscle) | Pathogenic |
5 | Neurologic | SARS2 NM_001145901.1:c.1353G>A; NP_001139373.1:p.(Thr451=) | Synonymous SNV | Paternal | Intron retention (fibroblast) | Likely pathogenic |
SARS2 NM_001145901.1:c.1061A>C; NP_001139373.1:p.(Glu354Ala) | Missense SNV | Maternal | No splice change (fibroblast) | Likely pathogenic | ||
6 | Musculoskeletal | MPV17 NG_008075.1(NM_002437.4):c.376-9T>G; NP_002428.1:p.? | Splice region SNV | Paternal | Exon skipping (blood, fibroblast) | Likely pathogenic |
MPV17 NM_002437.4:c.206G>A; NP_002428.1:p.(Trp69Ter) | Nonsense SNV | Maternal | No splice change (blood, fibroblast) | Pathogenic | ||
7 | Musculoskeletal | COL6A1 NG_008674.1(NM_001848.2):c.930+189C>T; NP_001839.2:p.? | Deep intronic SNV | De novo | Pseudoexon creation (muscle) | Pathogenic |
