Table 4.
Distribution of Clinical Severity and Results of Genotype-Phenotype Correlation Analysis[Note]
|
No. of Mutation-PositivePatients (%) [n=56] |
P |
||||
| Phenotype andClassificationa | Missense | Frameshift, Splice Site, and Nonsense | No. of Mutation-NegativePatients(%) [n=64] | Mutation-Positive vs.Mutation-Negative(χ2 Test) | Missense vs.All Other Mutations(Fisher’s Exact Test) |
| Limb reduction: | |||||
| I | 12 (92) | 25 (60) | 47 (75) | ||
| II | 1 (8) | 3 (7) | 9 (14) | ||
| III | 0 | 14 (33) | 7 (11) | ||
| NA | 0 | 1 | 1 | .085 | .029 |
| Developmental delay: | |||||
| I | 3 (23) | 1 (3) | 12 (20) | ||
| II | 6 (46) | 10 (25) | 27 (44) | ||
| III | 4 (31) | 29 (73) | 22 (36) | ||
| NA | 0 | 3 | 3 | .014 | .008 |
| Growth retardation: | |||||
| I | 3 (33) | 2 (7) | 17 (47) | ||
| II | 4 (44) | 11 (38) | 13 (36) | ||
| III | 2 (22) | 16 (55) | 6 (17) | ||
| NA | 4 | 14 | 28 | .002 | .057 |
Note.— n=56 for mutation-positive, and n=64 for mutation-negative individuals.
a
NA = Not assessed.