DMD_DMD
- Gene
- DMD
- Disease
- DMD
- Inheritance
- XR
- Classification
- Refuted
- Total Score
- 0
- Publications Reviewed
- 2
- Publication Span
- 8.65 years
- Last Updated
- 05/14/2025
- Curator(s)
- Laurel Hiatt, Harriet Dashnow
Description
There is conflicting evidence for the association between this repeat expansion and Duchenne muscular dystrophy. The association was reported in a single family, from which the benign and pathogenic ranges were inferred from affected and unaffected family members [@pmid:27417533]. However, a subsequent study of the repeat expansion in a large population cohort found that the proposed pathogenic allele is present at a much higher frequency than expected for a highly penetrant early-onset condition, leading the authors to conclude that the repeat expansion is unlikely to be pathogenic [@pmid:40140942].
Genetic evidence
Total: 0
| Singular Evidence | Probands | PMID:27417533 | 0 | Single family |
| Collective Evidence | Computational | PMID:40140942 | 0 | The population frequency of the proposed pathogenic allele is 4.705% in males, much higher than expected for a highly penetrant early-onset condition. The paper concludes that the repeat expansion is unlikely to be pathogenic. |
Experimental evidence
Total: 0
No experimental evidence details available.
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.