Table 1.
MYH7 variants associated with scoliosis based on a literature review.
| Country of Origin | Genotype |
Phenotypes |
Reference | |||
|---|---|---|---|---|---|---|
| Nucleotide change | Amino acid change | Scoliosis | Cardiomyopathy | Skeletal myopathy | ||
| N/A | c.1489_1500del | p.Glu500del | Kyphoscoliosis | N/A | Y | 12 |
| China | c.2011C > T | p.Arg671Cys | Scoliosis | Y | Y | Present study |
| USA | c.4522_4524del | p.Glu1508del | Scoliosis | Y | Y | 7 |
| UK | c.4664A > G | p.Glu1555Gly | Scoliosis | N | Y | 13 |
| UK | c.4699C > T | p.Gln1567∗ | Scoliosis | N | Y | 13 |
| UK | c.4823G > C | p.Arg1608Pro | Thoracic scoliosis | Y | Y | 7 |
| UK | c.4835T > C | p.Leu1612Pro | Spinal rigidity and scoliosis | N | Y | 7 |
| China | c.4849_4851 | p.Lys1617del | Scoliosis | Y | Y | 10 |
| Spain | c.4906G > C | p.Ala1636Pro | Thoracic scoliosis | Y | Y | 7 |
| USA | c.4937T > C | p.Leu1646Pro | Thoracic scoliosis, lumbar scoliosis | N | Y | 7 |
| China | c.5059_5061del | p.Glu1687del | Scoliosis | N | Y | 11 |
| AUS | c.5134C > T | p.Arg1712Trp | Scoliosis | N | Y | 13 |
| N/A | c.5352_5354del | p.Lys1784del | Scoliosis | Y | Y | 9 |
| UK | c.5378_5380del | p.Leu1793del | Kyphoscoliosis | Y | Y | 7 |
| Israel | c.5401G > A | p.Glu1801Lys | Lumbar lordosis | Y | Y | 7 |
Note: MYH7 transcript used = NM_000257.4. Y, yes; N, no.