Systematic screening of Autosomal Dominant Tubulointerstitial Kidney Disease-MUC1 27dupC pathogenic variant through exome sequencing
Résumé
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Number of tables: 2 + 1 supplementary
Key points:
• MUC1 is associated with autosomal dominant tubulointerstitial kidney disease, a genetic disorder progressing to kidney failure. • Variations in this gene are not easily diagnosed by conventional sequencing methods due to the length of sequencing reads produced by current sequencers and the MUC1 gene architecture, which contains GC-rich repeated sequences with a variable number of tandem repeats (VNTR). • Using dedicated bioinformatics tools, we systematically detected the presence of 27dupC, the most common MUC1 pathogenic variant from exome sequencing data.