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Table 1 Example of LARGE mutations, responsible for human genetic diseases, encompassing microRNA (miRNA) loci

From: microRNAs and genetic diseases

Disease OMIM Inheritance pattern Responsible gene/locus Disease gene locus miRNA involved in the mutation Type of mutation involving the miRNA Selected references
Choroideraemia *300390 X-linked recessive CHM Xq21.2 miR-361 Complete miRNA deletion [106, 107]
Dent disease #300009 X-linked recessive CLCN5 Xp11.22 miR-500; miR-600; miR-188; miR-362-5p; miR-362-3p; miR-500; miR-501; miR-502; miR-532-5p; miR-532-3p Complete miRNA deletion [108]
Epidermolysis bullosa #226650 Autosomal recessive COL17A1 10q24.3 miR-936 Complete miRNA deletion (one allele) [109, 110]
Muscular dystrophy, Duchenne/Beker #310200; #300376 X-linked recessive DMD Xp21.1 miR-548f-5 Complete miRNA deletion [111113]
Haemophilia A +306700 X-linked recessive F8 Xq28 miR-1184 Complete miRNA deletion [114116]
Beckwith-Wiedemann syndrome #130650 Autosomal dominant H19 11p15.5 miR-675 Complete miRNA deletion [117]
Pantothenate kinase-associated neurodegeneration/Harp syndrome #234200; #607236 Autosomal recessive PANK2 20p13-p12.3 miR-103-2 Complete miRNA deletion [118]
Polycystic kidney disease 1 #173900 Autosomal dominant PKD1 16p13.3-p13.12 miR-1225 Complete miRNA deletion [119]
HHH syndrome #238970 Autosomal recessive SLC25A15 13q14 miR-621 Complete miRNA deletion (one allele) [120]
Down syndrome #190685 --- Chromosome 21 trisomy Chromosome 21 miR-99a; let-7c; miR-125b; miR-155; miR-802 miRNA triplication [121123]
Williams-Beuren syndrome #194050 Autosomal dominant 7q11.23 deletion 7q11.23 miR-590 Complete miRNA deletion [124, 125]
DiGeorge syndrome #188400 Autosomal dominant 22q11.2 deletion 22q11.2 miR-648; miR-185; miR-1306; miR-1286; miR-649; miR-301b; miR-130b; miR-650 Complete miRNA deletion [126128]