Preliminary Results of a Genetic Study of Children with Duchenne Myodystrophy in Aktobe, Kazakhstan

Umurzakova A. Ayaganov D. Mannapova A. Dzhumasheva B. Dzhaksybayeva A.
May 2023 Razi Vaccine and Serum Research Institute

Archives of Razi Institute
2023 #78 Issue 3 949 - 954 pp.

Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular illness with a progressive course caused by mutations in the gene encoding the protein dystrophin (DMD; locus Xp21. 2). This study aimed to investigate the clinical aspects of DMD progression according to the mutation type. Included in the study were 38 boys aged 3 to 11 years. Laboratory (biochemical evaluation of the level of creatinine phosphokinase, multiplex ligation-dependent probe amplification [MLPA], and next-generation sequencing [NGS] analysis of the DMD gene), genealogical, and clinical approaches were utilized (including adapted Hammersmith Functional Motor Scale, the study of auditory-speech memory by the Memorizing 10 wordsmethod, and a general neurological assessment). The MLPA revealed deletion in 22 cases (57.8%), duplication in 6 (15.7%), and negative results in 11 (26.5%). To discover point mutations, 11 infants with negative MLPA results were sequenced. According to the results of the NGS, point mutations were identified in six boys (four singlenucleotide deletions and two single-nucleotide duplications), and five boys lacked mutations. Due to the high proportion of neuro-hereditary diseases in the general structure of neurological pathology, the profound disability of patients with progressive mental and physical disadaptation, as well as the generally fatal course of these incurable afflictions, molecular genetics research is of particular importance.

Duchenne myodystrophy , Genetic research , Mutations , Neuromuscular disorders , Sequencing

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West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan
Regional Childrens Clinical Hospital, Aktobe, Kazakhstan
Astana Medical University, Nur-Sultan, Kazakhstan

West Kazakhstan Marat Ospanov Medical University
Regional Childrens Clinical Hospital
Astana Medical University

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