| DKC1/TERC/PARN |
Dykseratosis Congenita (DC) |
Reduction in hTR levels [16, 117, 118] |
| SMN1 |
Spinal Muscular Atrophy (SMA) |
Non-uniform reduction in snRNA levels [17] |
| RMRP |
Cartilage hair Hypoplasia (CHH) |
Reduction in MRP RNA levels [31, 33] |
| RNU4atac |
Microcephalic Osteodysplastic Primordial Dwarfism 1 (MOPD1) |
Reduction in U4atac RNA levels [37] |
| B List of Possible hypo-mRNP Assembly Diseases |
| Gene |
Disease association |
mRNA mutation |
| HBA2 |
Constant Spring α thalassemia |
UAA-CAA mutation of the stop codon [38] |
| FKTN |
Fukuyama congenital muscular dystrophy |
Retrotransposon insertion in 3’ UTR of FKTN mRNA [41] |
| SEPN1 |
Rigid spine muscular dystrophy |
T-C or G-A mutation in the 3’ UTR [40, 119] |
| LRRK2 |
Parkinson’s disease |
SNP in 3’ UTR [42] |
