Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene. This retrospective study aims to evaluate the clinical manifestations and brain magnetic resonance images (MRI) analysis in 60 genetically confirmed NF1 patients. The results of next-generation sequencing (NGS), Sanger sequencing, and MLPA of NF1 gene were evaluated. A total of 54 different variants were identified. Fourteen out of them were novel variants (25.9%). Patients who complied with NIH criteria had most frequently frameshift variants (11/32 patients), and those with only CALMs had missense variants (9/28 patients). Neurofibromatosis type 1 bright objects (NBOs) on T2-weighted MRI were detected in 42 patients (42/56; 75%). These brain lesions were detected mostly in basal ganglia and in cerebellar vermis. NBOs were detected more in the patients who complied with NIH criteria (80.6%) compared to those who were only CALMs (68%). While frameshift variants (33.3%) were the most common type variants in the patients who had NBOs, the most common variants were splicing (35.7%) and missense (35.7%) variants in the patients whose MRIs were normal. Frameshift variants (11/28 patients; 39.3%) were the most common in the patients with more than one brain locus involvement. Therefore, we consider that frameshift variants may be associated with increased incidence of NBOs and involvement of more than one brain locus. In addition, NBOs may occur less frequently in the patients with splicing variants. To our knowledge, this is the first study evaluated the relationship between NF1 gene variants and NBOs. Future studies may help us understand the etiology of NBOs.

1 型神经纤维瘤病 (NF1) 是由NF 1 基因突变引起的。这项回顾性研究旨在评估 60 例基因证实的 NF1 患者的临床表现和脑磁共振图像 (MRI) 分析。NF1的下一代测序 (NGS)、Sanger 测序和 MLPA 的结果基因进行了评估。共鉴定出 54 种不同的变体。其中有 14 个是新的变体（25.9%）。符合 NIH 标准的患者最常出现移码变异（11/32 名患者），只有 CALM 的患者有错义变异（9/28 名患者）。42 名患者（42/56；75%）在 T2 加权 MRI 上检测到 1 型神经纤维瘤病明亮物体（NBO）。这些脑损伤主要在基底节和小脑蚓部检测到。与仅使用 CALM 的患者（68%）相比，符合 NIH 标准的患者（80.6%）检测到更多的 NBO。虽然移码变异 (33.3%) 是 NBO 患者中最常见的类型变异，但在 MRI 正常的患者中最常见的变异是剪接 (35.7%) 和错义 (35.7%) 变异。移码变体（11/28 名患者；39. 3%）在多于一个脑部位受累的患者中最常见。因此，我们认为移码变异可能与 NBO 发生率增加和多个脑部位的受累有关。此外，具有剪接变异的患者中 NBO 的发生频率可能​​较低。据我们所知，这是第一项评估两者之间关系的研究NF1基因变异和 NBO。未来的研究可能有助于我们了解 NBO 的病因。