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Detection of intragenic deletions in the DMD gene using chromosomal microarray analysis in a patient without clinical manifestations of muscular dystrophy
https://doi.org/10.25557/2073-7998.2025.09.157-159
Abstract
This study reports on the identification of an intragenic deletion encompassing exons 30-32 of the DMD gene, facilitated through chromosomal microarray analysis in a patient presenting with psychomotor delay. The findings enabled the diagnosis of Becker muscular dystrophy at a preclinical stage. The results underscore the efficacy of as a diagnostic tool in the screening of patients exhibiting an undifferentiated phenotype.
Supporting agencies: The study was conducted according to a state assignment (No. 122032300370-1).
About the Authors
A. S. Iakovleva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Iakovleva Anastasiia
1, Moskvorechye st., Moscow, 115522
Zh. G. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
A. E. Voskanyan
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
M. M. Antonova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
References
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4. Biagi L., Lenzi S., Cipriano E. et al., Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging. PLoS One. 2021;16(5):e0250420.
Review
For citations:
Iakovleva A.S., Markova Zh.G., Voskanyan A.E., Antonova M.M., Shilova N.V. Detection of intragenic deletions in the DMD gene using chromosomal microarray analysis in a patient without clinical manifestations of muscular dystrophy. Medical Genetics. 2025;24(9):157-159. (In Russ.) https://doi.org/10.25557/2073-7998.2025.09.157-159
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