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
A GAA repeat expansion in DMD intron 62 was proposed as a possible contributor to Duchenne/Becker-like dystrophinopathy based on a single three-generation family in which affected female relatives carried expanded alleles and population controls in that study had smaller alleles [@pmid:27417533]. However, large population analyses found the proposed pathogenic genotype at frequencies far exceeding expectations for a highly penetrant early-onset X-linked disorder, supporting refutation of the DMD repeat expansion as a pathogenic disease-causing locus [@pmid:40140942].
Genetic evidence
Total: 0
| Singular Evidence | Probands | PMID:27417533 | 0 | Single three-generation family reported with a DMD intron 62 GAA expansion (~59-82 repeats); two affected female relatives had chronic myopathy/dystrophinopathy-compatible findings, but the paper states that the repeat's phenotypic impact remains unresolved. |
| Collective Evidence | Computational | PMID:40140942 | 0 | Large population analysis found proposed pathogenic genotypes at 4.705% in gnomAD males and 0.089% in gnomAD females, with similar expanded alleles in HPRC long-read data; these frequencies greatly exceed DMD prevalence, supporting the conclusion 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.