16p11.2 deletion syndrome.
16p11.2 deletion syndrome.
复制标题
16p11.2缺失综合征。
DOI：
10.1016/j.gde.2021.01.011
复制
发表时间：
2021-06
影响因子：
4
通讯作者：
Spiro, John E.
中科院分区：
文献类型：
--
作者：
Chung, Wendy K.;Roberts, Timothy P. L.;Sherr, Elliott H.;Snyder, LeeAnne Green;Spiro, John E.
16p11.2BP4和BP5区是一种反复发生的~600kb拷贝数变异(CNV)，缺失是神经发育障碍和自闭症谱系障碍最常见的病因之一，发病率约为1/2000。缺失携带者在早期神经发育方面有延迟，最明显的是70%的人会损害语言、语音和语言。智商在没有删除的情况下比家族对照低1.8标准差。其他常见的神经行为疾病包括运动协调困难(60%)和自闭症(20%-25%)。无缘无故的癫痫发作很常见(24%)，许多人很容易治疗并随年龄增长而消失。肥胖症在整个儿童时期都会发生，成年后75%的人都会肥胖。先天畸形比一般人群更常见。这种缺失与大脑所有区域的脑体积增加、白质微结构特性的变化以及来自听觉皮质的早期电生理皮质反应有关。对遗传定义的疾病，特别是与严重残疾无关的CNV的研究，为研究遗传对大脑发育、结构和功能的影响提供了同质性，以更好地了解复杂的神经行为表型，如自闭症。
The 16p11.2 BP4 and BP5 region, is a recurrent ~600 kb copy number variant (CNV), and deletions are one of the most frequent etiologies of neurodevelopmental disorders and autism spectrum disorder with an incidence of approximately 1/2000. Deletion carriers have delays in early neurodevelopment that most specifically impair speech, phonology and language in 70%. Intelligence quotient is shifted 1.8 standard deviations lower than family controls without the deletion. Other common neurobehavioral conditions include motor coordination difficulties (60%) and autism (20–25%). Unprovoked seizures are common (24%) and readily treated and resolve with age in many. Obesity evolves throughout childhood and by adulthood 75% are obese. Congenital anomalies are more common than the general population. The deletion is associated with an increase in brain volumes across all areas of the brain, changes in the white matter microstructural properties, and early electrophysiological cortical responses from auditory cortex. Studies of genetically defined conditions, particularly CNVs that are not associated with profound disabilities, provide homogeneity to study genetic impact on brain development, structure, and function to better understand complex neurobehavioral phenotypes such as autism.
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影响因子：
6.9
作者：
Gill, Richard;Chen, Qixuan;Chung, Wendy K.
通讯作者：
Chung, Wendy K.
DOI：
10.1016/j.bpsc.2019.11.005
发表时间：
2020-10-01
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作者：
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作者：
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通讯作者：
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影响因子：
30.8
作者：
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通讯作者：
Wu, Zhi-Ying