Specificities of the DMD Gene Mutation Spectrum in Russian Patients

Zinina, Elena; Bulakh, Maria; Chukhrova, Alena; Ryzhkova, Oksana; Sparber, Peter; Shchagina, Olga; Polyakov, Aleksander; Kutsev, Sergey

doi:10.3390/ijms232112710

Open AccessArticle

Specificities of the DMD Gene Mutation Spectrum in Russian Patients

by

Elena Zinina

^*,

Maria Bulakh

,

Alena Chukhrova

,

Oksana Ryzhkova

,

Peter Sparber

,

Olga Shchagina

,

Aleksander Polyakov

^* and

Sergey Kutsev

Research Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia

^*

Authors to whom correspondence should be addressed.

Int. J. Mol. Sci. 2022, 23(21), 12710; https://doi.org/10.3390/ijms232112710

Submission received: 19 September 2022 / Revised: 19 October 2022 / Accepted: 20 October 2022 / Published: 22 October 2022

(This article belongs to the Special Issue Molecular Genetics and Genomics in Human Hereditary Diseases in Russia)

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Abstract

Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common form of muscular dystrophy, accounting for over 50% of all cases. In this regard, in Russia we carry out a program of selective screening for DMD/BMD, which mainly involves male patients. The main inclusion criteria are an increase in the level of creatine phosphokinase (>2000 U/L) or an established clinical diagnosis. At the first stage of screening, patients are scanned for extended deletions and duplications in the DMD gene using multiplex ligase-dependent probe amplification (MLPA SALSA P034 and P035 DMD probemix, MRC-Holland). The second stage is the search for small mutations using a custom NGS panel, which includes 31 genes responsible for various forms of limb-girdle muscular dystrophy. In a screening of 1025 families with a referral Duchenne/Becker diagnosis, pathogenic and likely pathogenic variants in the DMD gene were found in 788 families (in 76.9% of cases). In the current study, we analyzed the mutation spectrum of the DMD gene in Russian patients and noted certain differences between the examined cohort and the multi-ethnic cohort. The analysis of the DMD gene mutation spectrum is essential for patients with DMD/BMD because the exact mutation type determines the application of a specific therapeutic method.

Keywords: DMD; Duchenne/Becker muscular dystrophy; selective screening program; mutation spectrum; DNA-diagnostics

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MDPI and ACS Style

Zinina, E.; Bulakh, M.; Chukhrova, A.; Ryzhkova, O.; Sparber, P.; Shchagina, O.; Polyakov, A.; Kutsev, S. Specificities of the DMD Gene Mutation Spectrum in Russian Patients. Int. J. Mol. Sci. 2022, 23, 12710. https://doi.org/10.3390/ijms232112710

AMA Style

Zinina E, Bulakh M, Chukhrova A, Ryzhkova O, Sparber P, Shchagina O, Polyakov A, Kutsev S. Specificities of the DMD Gene Mutation Spectrum in Russian Patients. International Journal of Molecular Sciences. 2022; 23(21):12710. https://doi.org/10.3390/ijms232112710

Chicago/Turabian Style

Zinina, Elena, Maria Bulakh, Alena Chukhrova, Oksana Ryzhkova, Peter Sparber, Olga Shchagina, Aleksander Polyakov, and Sergey Kutsev. 2022. "Specificities of the DMD Gene Mutation Spectrum in Russian Patients" International Journal of Molecular Sciences 23, no. 21: 12710. https://doi.org/10.3390/ijms232112710

APA Style

Zinina, E., Bulakh, M., Chukhrova, A., Ryzhkova, O., Sparber, P., Shchagina, O., Polyakov, A., & Kutsev, S. (2022). Specificities of the DMD Gene Mutation Spectrum in Russian Patients. International Journal of Molecular Sciences, 23(21), 12710. https://doi.org/10.3390/ijms232112710

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Specificities of the DMD Gene Mutation Spectrum in Russian Patients

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