microRNAs and genetic diseases

Meola, Nicola; Gennarino, Vincenzo Alessandro; Banfi, Sandro

doi:10.1186/1755-8417-2-7

PathoGenetics

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	[111–113]
Haemophilia A	+306700	X-linked recessive	F8	Xq28	miR-1184	Complete miRNA deletion	[114–116]
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	[121–123]
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	[126–128]

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