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CDKL5 障碍是一种与早发性脑病相关的独立临床实体。

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

机构信息

Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia, Australia.

出版信息

Eur J Hum Genet. 2013 Mar;21(3):266-73. doi: 10.1038/ejhg.2012.156. Epub 2012 Aug 8.

Abstract

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2 mutations (n=920) was sourced from the InterRett database. Available photographs of CDKL5 patients were examined for dysmorphic features. The proportion of CDKL5 patients meeting the recent Neul criteria for atypical RTT was determined. Logistic regression and time-to-event analyses were used to compare the occurrence of Rett-like features in those with MECP2 and CDKL5 mutations. Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. Less than one-quarter met the criteria for early-onset seizure variant RTT. Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies. Although mutations in the CDKL5 gene have been described in association with the early-onset variant of RTT, in our study the majority did not meet these criteria. Therefore, the CDKL5 disorder should be considered separate to RTT, rather than another variant.

摘要

CDKL5 障碍的临床认识仍然有限,大多数信息来自于个别中心的小患者群体。本研究使用大型国际数据收集来描述 CDKL5 障碍的临床特征,并与 Rett 综合征 (RTT) 进行比较。从 InterRett 数据库中获取了 cyclin-dependent kinase-like 5 (CDKL5) 基因突变个体 (n=86) 和 MECP2 基因突变女性个体 (n=920) 的信息。对 CDKL5 患者的现有照片进行了检查,以评估其是否存在畸形特征。确定符合最近非典型 RTT 的 Neul 标准的 CDKL5 患者的比例。使用逻辑回归和时间事件分析比较 MECP2 和 CDKL5 基因突变患者中出现 Rett 样特征的比例。大多数 CDKL5 基因突变患者从出生开始就有严重的发育迟缓,在 3 个月前出现癫痫发作,并且具有相似的非畸形特征。不到四分之一的患者符合早发性癫痫变异 RTT 的标准。与 MECP2 基因突变患者相比,癫痫发作和睡眠障碍更为常见,而退行性和脊柱弯曲特征则较少见。CDKL5 障碍表现出独特的临床特征,以及微妙的面部、肢体和手部表型,这可能有助于与其他早发性脑病区分开来。尽管已经描述了 CDKL5 基因突变与 RTT 的早发性变异有关,但在我们的研究中,大多数患者不符合这些标准。因此,CDKL5 障碍应被视为与 RTT 不同,而不是另一种变异。

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