Table 1 Example of LARGE mutations, responsible for human genetic diseases, encompassing microRNA (miRNA) loci
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 | |
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) | |
Muscular dystrophy, Duchenne/Beker | #310200; #300376 | X-linked recessive | DMD | Xp21.1 | miR-548f-5 | Complete miRNA deletion | |
Haemophilia A | +306700 | X-linked recessive | F8 | Xq28 | miR-1184 | Complete miRNA deletion | |
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 | |
Williams-Beuren syndrome | #194050 | Autosomal dominant | 7q11.23 deletion | 7q11.23 | miR-590 | Complete miRNA deletion | |
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 |