Spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord is better known as herniated spinal cord. There are many arguments in favour of considering it a developmental defect. From this point of view, it is a type of neural tube disorder. Neural tube disorders can be caused by multiple factors, including a genetic factor. A common genetic defect in patients with a spinal dysraphism with a hamartomatous growth of the spinal cord is sought for. In two patients with a symptomatic lesion and referred to an academic hospital a genetic analysis was performed after informed consent. Whole-exome analysis was performed. : Whole-exome analysis did not result in identification of a clinically relevant genetic variant. This the first study to investigate the genetic contribution to spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord. We could not establish a genetic cause for this entity. This conclusion cannot be definitive due to the small sample size. However, the incidental occurrence, the lack of reports of inheritance of this disorder and the absence of contribution to syndromal disorders favours a defect of normal development of the spinal cord.

中文翻译：

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伴有错构瘤生长的脊髓发育不良的遗传分析（病例系列）

带有错构瘤生长（附录）的脊髓发育不良被称为椎间盘突出症。有很多主张将其视为发展缺陷的论点。从这个角度来看，它是一种神经管疾病。神经管疾病可由多种因素引起，包括遗传因素。寻找具有脊柱错构生长的脊椎发育不全患者的常见遗传缺陷。在两名有症状病变的患者中，转诊到一家学术医院，在知情同意后进行了基因分析。进行了全外显子组分析。：全外显子组分析未鉴定出临床相关的遗传变异。这是第一个研究遗传因素对脊髓发育不良（附录）的脊柱发育不良的遗传贡献的研究。我们无法为该实体建立遗传原因。由于样本量小，该结论不能确定。然而，偶然发生，缺乏该疾病遗传的报道以及对综合征症状的贡献的缺乏有利于脊髓正常发育的缺陷。