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A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort

机译:CONCLS队列临床与遗传特征2例2例报告及临床和遗传特征分析

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摘要

Abstract Background Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5–10:100,000 and no racial disparity in prevalence. The aim of this study was to present two unrelated Chinese CdLS individuals with mutations in NIPBL and to perform a comprehensive analysis of a Chinese cohort with CdLS. Subjects and methods Two unrelated Chinese patients complaining of short stature were referred to the outpatient department of Peking Union Medical College Hospital (PUMCH). Their clinical data at birth and at the most recent assessment were collected. Mutation analysis was carried out by whole exome sequencing. Twenty‐four Chinese cases with CdLS were identified through a systematic review of the literature published between 1987 and 2017. Results Two patients presented with typical phenotypes, characteristic complications of CdLS and mutations in the NIPBL gene. The average age at diagnosis of the 26 Chinese cases was higher than that of other cohorts. The frequencies of characteristic manifestations of CdLS were similar with those of other populations. Conclusions By investigating 26 Chinese cases of CdLS, we observed that the clinical data and gene variants in the Chinese cohort of CdLS patients were generally in accordance with those of other populations.
机译:摘要背景Cornelia de Lange综合症(CDL)是一种罕见的主要遗传发育障碍,估计患病率为0.5-10:100,000,普遍存在的种族差异。本研究的目的是在NIPBL中展示两个具有突变的无关中华CDLS个体,并对CDL进行综合分析。受试者和方法两个不相关的中国患者抱怨普通身材留下矮小的身材,北京联盟医院医院(PUMCH)的门诊部。他们在出生时和最近评估的临床数据被收集。通过整体exome测序进行突变分析。通过1987年至2017年之间发表的文献系统审查,确定了24例CDL的病例。结果两名患者呈现出典型表型,CDL的特征并发症和NIPBL基因的突变。 26例中诊断的平均年龄高于其他队列的年龄。 CDL的特征表现频率与其他人群的表现相似。结论通过研究26例中国CDLS病例,我们观察到中国群体CDLS患者的临床资料和基因变异通常符合其他人群的CDL患者。

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