AI Article Synopsis
- - Duchenne muscular dystrophy (DMD) is an inherited disorder linked to the absence of the Dystrophin protein, while cerebral cavernous malformations (CCMs) are common brain vascular abnormalities due to missing CCM gene products.
- - A unique case is presented of a 7-year-old boy with both DMD and sporadic CCMs, displaying typical DMD symptoms alongside some brain changes.
- - The diagnosis was confirmed through whole-exome sequencing, revealing a repeat mutation from DMD inherited from his mother and a new mutation in the PDCD10 gene, emphasizing the need to consider multiple genetic disorders in patients.
Article Abstract
Background: Duchenne muscular dystrophy (DMD) is an X-linked recessive inherited disorder caused by the absence of the Dystrophin protein. Cerebral cavernous malformations (CCMs) are the most common vascular abnormalities in the central nervous system caused by the absence of the products of the CCM genes. Most CCMs cases reported occurring in a sporadic form are often asymptomatic.
Case Presentation: We report a rare case of a 7-year-old Chinese boy with a co-existing DMD and sporadic CCMs. We found classic clinical features of DMD and non-specific pathological changes in his brain. We made the definitive diagnosis based on the results of whole-exome sequencing (WES), a repeat from exon 3 to exon 9 of the DMD inherited from his mother, and a de novo heterozygote nonsense mutation C.418G > T of the PDCD10 exon 6.
Conclusion: We should take care to avoid missed diagnoses in patients with multiple genetic disorders.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297618 | PMC |
| http://dx.doi.org/10.1186/s12887-022-03490-0 | DOI Listing |
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