ArticleHuman mutation2026
X;7 Translocation at p21.1 and q31.31 Disrupting
Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Dystrophinopathy comprises a group of X-linked recessive muscular disorders that primarily affect skeletal and/or cardiac muscles. Although more than 90% of dystrophinopathy patients exhibit detectable variants in the Methods: We employed an integrated multiomics approach, including RNA sequencing (RNA-seq) of muscle tissue, optical genome mapping (OGM), short- and long-read whole-genome sequencing (WGS), and karyotype analysis to elucidate the genetic mechanism in a dystrophinopathy family. Results: Integrated genomic analyses identified a balanced reciprocal translocation between Xp21.1 and 7q31.31 in the proband, with the X-chromosomal breakpoint disrupting intron 20 of Conclusions: We report a rare male case of dystrophinopathy caused by an X;autosome translocation disrupting
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