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An integrated transcriptomics and genomics approach detects an X/Autosome translocation in a female with duchenne muscular dystrophy.
Int. J. Mol. Sci. 25:7793 (2024)
Duchenne and Becker muscular dystrophies, caused by pathogenic variants in DMD, are the most common inherited neuromuscular conditions in childhood. These diseases follow an X-linked recessive inheritance pattern, and mainly males are affected. The most prevalent pathogenic variants in the DMD gene are copy number variants (CNVs), and most patients achieve their genetic diagnosis through Multiplex Ligation-dependent Probe Amplification (MLPA) or exome sequencing. Here, we investigated a female patient presenting with muscular dystrophy who remained genetically undiagnosed after MLPA and exome sequencing. RNA sequencing (RNAseq) from the patient's muscle biopsy identified an 85% reduction in DMD expression compared to 116 muscle samples included in the cohort. A de novo balanced translocation between chromosome 17 and the X chromosome (t(X;17)(p21.1;q23.2)) disrupting the DMD and BCAS3 genes was identified through trio whole genome sequencing (WGS). The combined analysis of RNAseq and WGS played a crucial role in the detection and characterisation of the disease-causing variant in this patient, who had been undiagnosed for over two decades. This case illustrates the diagnostic odyssey of female DMD patients with complex structural variants that are not detected by current panel or exome sequencing analysis.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Dmd ; Duchenne Muscular Dystrophy ; Rna Sequencing ; Female Carrier ; Genetic Diagnosis ; Translocation ; Whole Genome Sequencing; Joint Consensus Recommendation; Manifesting Carriers; Structural Variants; Medical Genetics; American-college; Sequence; Database; Chromosome; Standards; Complex
ISSN (print) / ISBN
1422-0067
e-ISSN
1661-6596
Quellenangaben
Volume: 25,
Issue: 14,
Article Number: 7793
Publisher
MDPI
Publishing Place
Basel
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Computational Biology (ICB)
Grants
Ministerio de Universidades
Deutsche Forschungsgemeinschaft (DFG, German Research Foundation)
European Union
Deutsche Forschungsgemeinschaft (DFG, German Research Foundation)
European Union