■由肌肉功能障碍引起的持续性高CKA血症通常归因于肌肉相关基因的遗传改变,如肌营养不良蛋白基因(DMD)。DMD分析结果的回顾性评估,与持续性高CK血症相关,进行了。
■评估1996-2021年期间转诊的1354例无关病例的病历。关于DMD基因重排和核苷酸变体检测的数据评估。
■总共730例(657例,确定了569个希腊语和88个阿尔巴尼亚语),从而可以对〜1:3800名男性活产的肌营养不良蛋白病发病率进行总体估计。275个不同的DMD改变的异质谱包括外显子缺失/重复,核苷酸变体,和罕见的事件,如染色体易位{t(X;20)},连续的基因缺失和涉及DMD和DOCK8基因的融合基因。种族特异性的发现包括外显子36中的一个常见创始人变体(\'希腊\'变体)。
■大约50%的高CKemia病例以肌养蛋白病为特征,强调DMD变异可能被认为是希腊高CK血症的最常见原因。广泛的遗传和临床异质性的划定是可行的公共卫生决策和治疗诊断的基础,以及建立解决道德考虑的指导方针,特别是与轻度无症状患者亚组有关。
UNASSIGNED: Persistent hyperCKemia results from muscle dysfunction often attributed to genetic alterations of muscle-related genes, such as the dystrophin gene (DMD). Retrospective assessment of findings from DMD analysis, in association with persistent HyperCKemia, was conducted.
UNASSIGNED: Evaluation of medical records from 1354 unrelated cases referred during the period 1996-2021. Assessment of data concerning the detection of DMD gene rearrangements and nucleotide variants.
UNASSIGNED: A total of 730 individuals (657 cases, 569 of Greek and 88 of Albanian origins) were identified, allowing an overall estimation of dystrophinopathy incidence at ~1:3800 live male births. The heterogeneous spectrum of 275 distinct DMD alterations comprised exon(s) deletions/duplications, nucleotide variants, and rare events, such as chromosome translocation {t(X;20)}, contiguous gene deletions, and a fused gene involving the DMD and the DOCK8 genes. Ethnic-specific findings include a common founder variant in exon 36 (\'Hellenic\' variant).
UNASSIGNED: Some 50% of hyperCKemia cases were characterized as dystrophinopathies, highlighting that DMD variants may be considered the most common cause of hyperCKemia in Greece. Delineation of the broad genetic and clinical heterogeneity is fundamental for actionable public health decisions and theragnosis, as well as the establishment of guidelines addressing ethical considerations, especially related to the mild asymptomatic patient subgroup.