PDF(Pubmed)
Abstract：
Congenital myotonia is a non-dystrophic musculoskeletal disease that causes abnormal muscle relaxation. The prevalence of congenital disorders is notably high in Iran, emphasizing the importance of genetic assessment in suspicious cases. In this study, we aim to report cases with the chloride channel gene, CLCN1, mutations leading to significant morbidity. This case report study investigated four patients from four families with clinically defined congenital myotonia. Inclusion criteria were increased creatinine kinase (CK) and muscle stiffness. We collected data regarding family history, age of onset, and current therapeutic plan. All patients underwent skeletal muscle electromyography, cardiological evaluation, spirometry study, and hematochemistry assessment, including but not limited to muscle enzyme levels. Afterward, DNA was extracted from peripheral blood. Subsequently, whole exome sequencing (WES) and Sanger sequencing were done to detect and confirm variants, respectively. Age of onset ranged from 1 to 12 years in these patients, which are years apart from their first visit to the clinic. The warm-up phenomenon was present in all of them. A variant of uncertain clinical significance was found. We recommend that future research projects should study the efficiency of collaboration between clinicians, molecular geneticists, and other healthcare providers in order to find out about unclear variants as quickly as possible.
摘要：
先天性肌强直是一种非营养不良的肌肉骨骼疾病，会导致异常的肌肉松弛。伊朗的先天性疾病患病率很高，强调在可疑病例中进行基因评估的重要性。在这项研究中,我们的目的是报告氯通道基因的病例，CLCN1，突变导致显著的发病率。本病例报告研究调查了来自四个临床定义的先天性肌强直家庭的四名患者。纳入标准为肌酐激酶（CK）和肌肉僵硬度增加。我们收集了有关家族史的数据,发病年龄,和目前的治疗计划。所有患者均接受骨骼肌肌电图检查,心脏病学评估，肺活量测定研究，和血液化学评估，包括但不限于肌肉酶水平。之后,从外周血中提取DNA。随后，全外显子组测序（WES）和Sanger测序进行检测和确认变异，分别。这些患者的发病年龄为1至12岁，距离他们第一次去诊所还有几年的时间。热身现象存在于所有这些中。发现了临床意义不确定的变体。我们建议未来的研究项目应该研究临床医生之间合作的效率，分子遗传学家，和其他医疗保健提供者，以便尽快找出不清楚的变体。
