{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10(6)"],"submitter":["Liu C"],"funding":["National Natural Science Foundation of China"],"pubmed_abstract":["Most pathogenic <i>DMD</i> variants are detectable and interpretable by standard genetic testing for dystrophinopthies. However, approximately 1∼3% of dystrophinopthies patients still do not have a detectable <i>DMD</i> variant after standard genetic testing, most likely due to structural chromosome rearrangements and/or deep intronic pseudoexon-activating variants. Here, we report on a boy with a suspected diagnosis of Becker muscular dystrophy (BMD) who remained without a detectable <i>DMD</i> variant after exonic DNA-based standard genetic testing. <i>Dystrophin</i> mRNA studies and genomic Sanger sequencing were performed in the boy, followed by <i>in silico</i> splicing analyses. We successfully detected a novel deep intronic disease-causing variant in the <i>DMD</i> gene (c.2380 + 3317A > T), which consequently resulting in a new <i>dystrophin</i> pseudoexon activation through the enhancement of a cryptic donor splice site. The patient was therefore genetically diagnosed with BMD. Our case report further emphasizes the significant role of disease-causing splicing variants within deep intronic regions in genetically undiagnosed dystrophinopathies."],"journal":["Heliyon"],"pagination":["e28020"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10966583"],"repository":["biostudies-literature"],"pubmed_title":["A novel deep intronic variant introduce <i>dystrophin</i> pseudoexon in Becker muscular dystrophy: A case report."],"pmcid":["PMC10966583"],"pubmed_authors":["Lu Y","Xie Z","Sun C","Deng J","Meng L","Liu C","Niu F","Cheng X","Wang Z","Yu H","Zhao Y","Yuan Y"],"additional_accession":[]},"is_claimable":false,"name":"A novel deep intronic variant introduce <i>dystrophin</i> pseudoexon in Becker muscular dystrophy: A case report.","description":"Most pathogenic <i>DMD</i> variants are detectable and interpretable by standard genetic testing for dystrophinopthies. However, approximately 1∼3% of dystrophinopthies patients still do not have a detectable <i>DMD</i> variant after standard genetic testing, most likely due to structural chromosome rearrangements and/or deep intronic pseudoexon-activating variants. Here, we report on a boy with a suspected diagnosis of Becker muscular dystrophy (BMD) who remained without a detectable <i>DMD</i> variant after exonic DNA-based standard genetic testing. <i>Dystrophin</i> mRNA studies and genomic Sanger sequencing were performed in the boy, followed by <i>in silico</i> splicing analyses. We successfully detected a novel deep intronic disease-causing variant in the <i>DMD</i> gene (c.2380 + 3317A > T), which consequently resulting in a new <i>dystrophin</i> pseudoexon activation through the enhancement of a cryptic donor splice site. The patient was therefore genetically diagnosed with BMD. Our case report further emphasizes the significant role of disease-causing splicing variants within deep intronic regions in genetically undiagnosed dystrophinopathies.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2025-04-21T21:30:54.629Z","creation":"2025-04-05T18:22:29.844Z"},"accession":"S-EPMC10966583","cross_references":{"pubmed":["38545205"],"doi":["10.1016/j.heliyon.2024.e28020"]}}