Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.
Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.
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DOI：
10.1016/j.neuroimage.2010.02.070
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发表时间：
2010-11-15
期刊：
影响因子：
5.7
通讯作者：
Berman, Karen Faith
中科院分区：
文献类型：
--
作者：
Eisenberg, Daniel Paul;Jabbi, Mbemba;Berman, Karen Faith
研究基因和复杂人类行为的神经基质之间的关系，有望为精神障碍的病理生理学提供重要的见解。这种调查的一种方法是通过对表现为特定神经精神表型的微缺失综合征患者进行神经影像学检查。速度心面综合征（VCFS）和威廉姆斯综合征（WS）两者一方面涉及相对小的一组鉴定的基因的单倍不足，另一方面涉及与不同的临床相关的行为和认知概况的关联。在VCFS中，染色体区域22q11.2有一个缺失，结果是倾向于精神病、算术能力差和低操作智力缺陷。在WS中，染色体区域7q11.23中存在缺失，并由此导致对过度社交、非社交焦虑、视觉空间结构受损以及通常的智力障碍的偏好。结构和功能神经影像学研究不仅开始将这些明确的遗传改变映射到系统水平的脑异常，而且还确定神经表型和关键缺失区域内特定基因之间的关系。虽然VCFS和WS的神经影像学表现出了具体的、艰巨的方法学挑战，包括比较受试者的选择和对患者神经解剖和血管异常的解释，并且仍然存在许多问题，但本文综述的迄今为止关于这些综合征的文献构成了一种富有成效的“自下而上”的方法来定义基因-脑关系。
Investigating the relationship between genes and the neural substrates of complex human behavior promises to provide essential insight into the pathophysiology of mental disorders. One approach to this inquiry is through neuroimaging of individuals with microdeletion syndromes that manifest in specific neuropsychiatric phenotypes. Both Velocardiofacial Syndrome (VCFS) and Williams Syndrome (WS) involve haploinsufficiency of a relatively small set of identified genes on the one hand and association with distinct, clinically-relevant behavioral and cognitive profiles on the other hand. In VCFS, there is a deletion in chromosomal region 22q11.2 and a resultant predilection toward psychosis, poor arithmetic proficiency, and low performance intelligence quotients. In WS, there is a deletion in chromosomal region 7q11.23 and a resultant predilection toward hypersociability, non-social anxiety, impaired visuospatial construction, and often intellectual impairment. Structural and functional neuroimaging studies have begun not only to map these well-defined genetic alterations to systems-level brain abnormalities, but also to identify relationships between neural phenotypes and particular genes within the critical deletion regions. Though neuroimaging of both VCFS and WS presents specific, formidable methodological challenges, including comparison subject selection and accounting for neuroanatomical and vascular anomalies in patients, and many questions remain, the literature to date on these syndromes, reviewed herein, constitutes a fruitful “bottom-up” approach to defining gene-brain relationships.
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