Table 3.
NMD Modulates the Clinical Phenotype
| Gene Symbol | Gene Name | OMIM reference no. | Phenotype | References |
|---|---|---|---|---|
| COL1A1 | Collagen type I, al | 120150 | 5’ PTC osteogenesis imperfecta type I 3’ PTC osteogenesis imperfect type II-IV | [101, 102] |
| COL2A1 | Collagen type II, al | 120140 | 5’ PTC Stickler syndrome 3’ PTC spondyloepiphyseal dysplasia | [101, 103] |
| DMD | Dystrophin | 300377 | 5’ PTC Duchenne muscular dystrophy 3’ PTC Becker muscular dystrophy | [104, 105] |
| FBN1 | Fibrillin-1 | 134797 | Marfan syndrome and type 1 fibrillinopathies 5’ PTC more severe | [106, 107] |
| SALL1 | Sal-like 1 | 107480 | 5’ PTC milder phenotype 3’ PTC Townes-Brocks syndrome | [100] |
| GHR | Growth hormone receptor | 265500 | 5’ PTC Growth hormone insensitivity syndrome | [108] |
| FGD4 | Frabin | 611104 | Charcot Marie Tooth disease type 4H 5’ PTC less severe | [109, 110] |
| HEXA | Hexosaminidase A | 606869 | Tay-Sachs disease 5’ PTC infantile (severe) | [111] |
| RB1 | Retinoblastoma | 180200 | Retinoblastoma 5’ PTC early onset | [112] |
| ATM | Ataxia-telangiectasia mutated | 607585 | 5’ PTC mild 3’ PTC severe | [113] |
PTC: premature termination codon