Vafaei Nahid, Mohebbi Ali, Rezaei Zahra, Heidari Morteza, Hosseinpour Sareh, Dehnavi Ali Zare, Ghamari Azin, Salehipour Masoud, Rabbani Ali, Mahdieh Nejat, Ashrafi Mahmoud Reza
Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Pediatrics Center of Excellence, Department of Pediatric Neurology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Mol Syndromol. 2024 Feb;15(1):30-36. doi: 10.1159/000534100. Epub 2023 Oct 16.
variants have been identified as a causative agent of neuronal ceroid lipofuscinosis 2 disease, that ataxia is one of its clinical features. Therefore, here, molecular study of variants is presented in an Iranian cohort and a novel pathogenic variant is described.
This investigation was conducted as a cross-sectional study in a tertiary referral hospital, Children's Medical Center, Pediatrics Center of Excellence. Clinical presentations and pedigrees were documented. Patients with cerebellar ataxia were enrolled in this study. Next-generation sequencing was applied to confirm the diagnosis. Segregation and bioinformatics analyses were also done for the variants using Sanger sequencing.
Forty-five patients were included in our study. The mean age of onset was 104 (+55.60) months (minimum = 31 months, maximum = 216 months). The majority of cases (73.3%) were born to consanguineous parents and only 1 patient (2.2%) had an affected sibling. Of the 45 patients, only 1 patient with a novel pathogenic variant (c.1425_1425+1delinsAT, p.A476Cfs*15) in the gene was identified.
The main strength of current study is the relatively large sample size. Besides, a novel pathogenic variant could be important toward the diagnosis and management of this condition. With significant advances in various therapies, early diagnosis could improve the treatments using personalized-based medicine.
已确定[具体基因名称]变异是神经元蜡样脂褐质沉积症2型疾病的致病因素，共济失调是其临床特征之一。因此，本文报告了对一个伊朗队列中[具体基因名称]变异的分子研究，并描述了一种新的致病变异。
本研究在一家三级转诊医院——儿童医学中心卓越儿科中心进行，为横断面研究。记录了临床表现和家系情况。纳入患有小脑共济失调的患者。应用二代测序来确诊。还使用桑格测序对变异进行了分离和生物信息学分析。
我们的研究纳入了45名患者。平均发病年龄为104（±55.60）个月（最小 = 31个月，最大 = 216个月）。大多数病例（73.3%）的父母为近亲结婚，只有1名患者（2.2%）有患病的兄弟姐妹。在这45名患者中，仅鉴定出1名患者在[具体基因名称]基因中有一个新的致病变异（c.1425_1425+1delinsAT，p.A476Cfs*15）。
本研究的主要优势在于样本量相对较大。此外，一种新的致病变异对于这种疾病的诊断和管理可能具有重要意义。随着各种治疗方法的显著进步，早期诊断可以改善基于个性化医疗的治疗效果。
