Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain.
Facultat de Medicina, Universitat de Barcelona, Barcelona, Spain.
Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3.
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate the usefulness of NGS in genetic diagnosis, we present the genetic study of RTT-like patients using different techniques based on this technology. We studied 1577 patients with RTT-like clinical diagnoses and reviewed patients who were previously studied and thought to have RTT genes by Sanger sequencing. Genetically, 477 of 1577 patients with a RTT-like suspicion have been diagnosed. Positive results were found in 30% by Sanger sequencing, 23% with a custom panel, 24% with a commercial panel and 32% with whole exome sequencing. A genetic study using NGS allows the study of a larger number of genes associated with RTT-like symptoms simultaneously, providing genetic study of a wider group of patients as well as significantly reducing the response time and cost of the study.
雷特综合征(RTT)是一种早期发病的神经发育障碍,几乎仅影响女孩,且完全致残。已经确定了三个导致 RTT 的基因:MECP2、CDKL5 和 FOXG1。然而,一些 RTT 患者的病因仍不清楚。最近,下一代测序(NGS)因其方法的快速和经济实惠而促进了基因诊断。为了评估 NGS 在遗传诊断中的有用性,我们使用基于该技术的不同技术,对 RTT 样患者进行了遗传研究。我们研究了 1577 例具有 RTT 样临床诊断的患者,并回顾了先前通过 Sanger 测序研究并认为具有 RTT 基因的患者。在 1577 例具有 RTT 样可疑的患者中,有 477 例被诊断为遗传性疾病。Sanger 测序的阳性率为 30%,定制面板为 23%,商业面板为 24%,外显子组测序为 32%。使用 NGS 的遗传研究可以同时研究与 RTT 样症状相关的大量基因,为更多的患者提供遗传研究,并显著缩短研究的响应时间和成本。