Table 2.
NMD Causes Distinct Traits to Manifest from the Same Gene
| Gene Symbol | Gene Name | OMIMreference no. | 5’ haploinsufficiency 3’ PTC dominant-negative or gain-of-function | References |
|---|---|---|---|---|
| SOX10 | SRY-box 10 | 602229 | 5’ PTC Waardenburg syndrome 3’ PTC PCWH | [87, 88] |
| MPZ | Myelin protein zero | 159440 | 5’ PTC Charcot-Marie-Tooth disease type 1B 3’ PTC Congenital hypomyelinating neuropathy | [89] |
| ELN | Elastin | 130160 | 5’ PTC Supravalvular aortic stenosis 3’ PTC Congenital cutis laxa | [90] |
| COL1A2 | Collagen type 1 alpha 2 | 120160 | 5’ PTC Ehlers-Danlos syndrome (EDS) 3’ PTC Osteogenesis imperfecta | [91] |
| COL4A1 | Collagen type 4 alpha 1 | 120130 | 5’ PTC Small vessel brain disease 3’ PTC HANAC | [92, 93] |
| NDUFS4 | NADH-ubiquinone oxidoreductase Fe-S protein 4 | 602694 | 5’ PTC Leigh syndrome 3’ PTC Respiratory complex I deficiency | [94] |
| SLC4A1 | Solute carrier family four member 1 | 109270 | 5’ PTC Spherocytosis 3’ PTC Renal tubular acidosis | [95, 96] |
| ALS2 | Alsin | 606352 | 5’ PTC Amyotrophic lateral sclerosis 3’ PTC Infantile-onset ascending spastic paralysis | [97, 98] |
| GLI3 | Gli-Kruppel family member 3 | 165240 | 5’ PTC Greig cephalopolysyndactyly syndrome 3’ PTC Pallister-Hall syndrome & acrocallosal syndrome | [99, 100] |
HANAC: hereditary angiopathy with nephropathy, aneurysm, and muscle cramps syndrome; PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease; PTC: premature termination codon