Preliminary results of a genetic study of children with Duchenne Myodystrophy in Aktobe, Kazakhstan

Umurzakova, Ainur; Dzhumasheva, Bagila; Mannapova, Akzhunis; Dzhumasheva, Bagila; Dzhaksybayeva, Altynshash

doi:10.22092/ari.2022.360050.2534

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	Preliminary results of a genetic study of children with Duchenne Myodystrophy in Aktobe, Kazakhstan
Archives of Razi Institute
مقالات آماده انتشار، پذیرفته شده، انتشار آنلاین از تاریخ 26 مهر 1401
نوع مقاله: Original Articles
شناسه دیجیتال (DOI): 10.22092/ari.2022.360050.2534
نویسندگان
Ainur Umurzakova ¹؛ Bagila Dzhumasheva²؛ Akzhunis Mannapova¹؛ Bagila Dzhumasheva²؛ Altynshash Dzhaksybayeva³
¹West Kazakhstan Marat Ospanov Medical University Aktobe, Kazakhstan ORCID 0000-0002-0777-8822 akzhunis.mannapova@mail.ru
²Regional Children's Clinical Hospital Aktobe, Kazakhstan ORCID 0000-0002-3612-1993 bagilya.d@mail.ru
³Astana Medical University Nur-Sultan, Kazakhstan ORCID 0000-0002-8927-7377 altynshash@gmail.com
چکیده
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's purpose was to investigate look into the clinical aspects of DMD progression according to mutation type. Included in the study were 38 boys aged 3 to 11 years. Laboratory (biochemical evaluation of the level of creatinine phosphokinase, MLPA, and NGS analysis of the DMD gene), genealogical, and clinical approaches were utilized (adapted Hammersmith Functional Motor Scale, the study of auditory-speech memory by the method of "Memorizing 10 words", general neurological assessment). MLPA revealed a deletion in 22 cases (57.8%), duplication in six cases (15.7%), and negative results in 26.5%. (11 cases). To discover point mutations, 11 infants with negative MLPA results were sequenced. According to the results of NGS, point mutations were identified in 6 boys (4 single-nucleotide deletions and 2 single-nucleotide duplications), whereas 5 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, and the generally fatal course of these incurable afflictions, molecular genetics research is of particular importance.
کلیدواژه‌ها
neuromuscular disorders؛ Duchenne myodystrophy؛ genetic research؛ mutations؛ sequencing

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Preliminary results of a genetic study of children with Duchenne Myodystrophy in Aktobe, Kazakhstan