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mRNA Analysis Identifies deep Intronic Splicing Variants Leading to Alport Syndrome and Overcomes the Problem of Negative Results of Exome Sequencing

2021-01-21

Abstract excerpt

Mutations in COL4A3, COL4A4 and COL4A5 genes lead to Alport syndrome (AS). However, pathogenic variants in some AS patients are not detected by exome sequencing. The aim of this study was to identify the underlying genetic causes of five unrelated AS probands with negative NGS test results. Urine COL4A3–5 mRNAs were analyzed in the probands with an uncertain inherited mode of AS, and COL4A5 mRNA of skin fibroblast...

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Literature Corpus work: cfd8f32b-fb00-523e-8da8-dc7ea6b35ccb
DOI: 10.21203/rs.3.rs-150525/v1

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