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

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 Xp۲۱. ۲). This study aimed to investigate the clinical aspects of DMD progression according to the mutation type. Included in the study were ۳۸ boys aged ۳ to ۱۱ 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 ۱۰ words" method, and a general neurological assessment). The MLPA revealed deletion in ۲۲ cases (۵۷.۸%), duplication in ۶ (۱۵.۷%), and negative results in ۱۱ (۲۶.۵%). To discover point mutations, ۱۱ infants with negative MLPA results were sequenced. According to the results of the NGS, point mutations were identified in six boys (four single-nucleotide 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.

کلیدواژه ها:

Duchenne myodystrophy ، genetic research ، mutations ، neuromuscular disorders ، Sequencing