Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children
Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children
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DOI：
10.1097/ypg.0000000000000259
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发表时间：
2020-10-01
影响因子：
0.9
通讯作者：
Johnstone, Mandy
中科院分区：
文献类型：
--
作者：
Fetit, Rana;Price, David J.;Johnstone, Mandy
背景拷贝数变异(CNV)是一种基因重排，如缺失和复制，其结果是偏离给定基因片段的正常拷贝数。CNV与许多神经精神疾病有关。人类染色体16p11.2区缺失是自闭症谱系障碍(ASD)最常见的遗传关联之一。然而，ASD并不是唯一的表现特征，许多16p11.2缺失的患者表现出不同的临床谱系。方法为了更好地了解该综合征在整个发育过程中的性质和表现，我们报告了三例不同的、无关的16p11.2缺失儿童的临床病例，并详细描述了他们的临床表现。结果三例16p11.2缺失的患者都有认知和运动障碍，尽管损害的程度和临床表现不同。两名患者有ASD的临床诊断，一名患者表现出几种ASD特征。此外，两名患者也有严重的言语和语言障碍，这与之前关于16p11.2表型的报道一致。虽然癫痫和肥胖经常与16p11.2缺失相关，但只有1例患者被诊断为癫痫，3例患者均不肥胖。结论这种临床表型的差异给正确的临床解释和诊断带来了挑战。因此，阐明罕见CNV的不同临床表型，包括16p11.2缺失，以帮助指导患者和家属的临床监测和咨询是至关重要的。
Background Copy number variants (CNVs) are genetic rearrangements, such as deletions and duplications, which result in a deviation from the normal number of copies of a given gene segment. CNVs are implicated in many neuropsychiatric disorders. Deletions of the human chromosomal region 16p11.2 are one of the most common genetic linkages to autism spectrum disorders (ASD). However, ASD is not the only presenting feature, and many patients with 16p11.2 deletions present with a variable clinical spectrum.Methods To better understand the nature and presentation of the syndrome throughout development, we present three different, unrelated clinical cases of children with 16p11.2 deletion and provide a detailed description of their clinical manifestations.Results Cognitive and motor impairments were characteristic of all three patients with 16p11.2 deletion, despite the differences in the extent and clinical presentation of impairment. Two patients had a clinical diagnosis of ASD and one showed several ASD traits. In addition, two patients also had severe speech and language impairments, which is in line with previous reports on 16p11.2 phenotypes. Although epilepsy and obesity have been frequently associated with 16p11.2 deletion, only one patient had a diagnosis of epilepsy and none of the three cases were obese.Conclusion This variation in clinical phenotype renders correct clinical interpretation and diagnosis challenging. Therefore, it is critical to elucidate the variable clinical phenotypes of rare CNVs, including 16p11.2 deletions, to help guide clinical monitoring and counselling of patients and families.