Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome -: A preliminary study
Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome -: A preliminary study
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DOI：
10.1001/archpsyc.58.1.64
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发表时间：
2001-01-01
影响因子：
--
通讯作者：
Reiss, AL
中科院分区：
文献类型：
--
作者：
Eliez, S;Antonarakis, SE;Reiss, AL
背景资料：随着患腭心面综合征（VCFS）的儿童的发展，他们患精神病理学的风险增加;三分之一最终会发展为精神分裂症。由于VCFS和伴随的症状是由已知的遗传起源引起的，因此该综合征的生物学和行为特征为概念化基因、大脑发育和行为之间的关联提供了最佳框架。本研究的目的是探讨父母来源的22q11.2微缺失对儿童和青少年VCFS脑发育的影响。DNA多态性分析的结果确定了缺失的亲本来源。9例VCFS患者在母系来源的22号染色体上有缺失; 9例患者在父系来源的22号染色体上有缺失。高分辨率的磁共振成像扫描进行了分析，以提供定量措施的灰色和白色物质brain tissue.Results：脑总体积约11%，小于VCFS组比对照组。VCFS亚组（母亲与父亲22 q11.2微缺失）之间的比较表明大脑灰质总体积（父亲微缺失患者的体积更大）有显著的9%体积差异，但大脑白色物质无差异。显着的年龄相关的变化，灰质检测到的主题，其22q11.2缺失是在母亲chromosome.Conclusions：儿童和青少年VCFS的经验，脑容量的重大改变。灰质发育的显著减少归因于母体染色体上22q11.2微缺失的存在。
Background: As children with velocardiofacial syndrome (VCFS) develop, they are at increased risk for psychopathology; one third will eventually develop schizophrenia. Because VCFS and the concomitant symptomatology result from a known genetic origin, the biological and behavioral characteristics of the syndrome provide an optimal framework for conceptualizing the associations among genes, brain development, and behavior. The purpose of this study was to investigate the effect of the parental origin of the 22q11.2 microdeletion on the brain development of children and adolescents with VCFS.Methods: Eighteen persons with VCFS and 18 normal control subjects were matched individually for age and sex. Results of DNA polymorphism analyses determined the parental origin of the deletion. Nine persons with VCFS had a deletion on the maternally derived chromosome 22; 9 persons, on the paternally derived chromosome 22. High-resolution magnetic resonance imaging scans were analyzed to provide quantitative measures of gray and white matter brain tissue.Results: Total brain volume was approximately 11% smaller in the VCFS group than in controls. Comparisons between VCFS subgroups (maternal vs paternal microdeletion 22q11.2) indicated a significant 9% volumetric difference in total volume of cerebral gray matter (volume was greater in patients with paternal microdeletion) but not cerebral white matter. Significant age-related changes in gray matter were detected for subjects whose 22q11.2 deletion was on the maternal chromosome.Conclusions: Children and adolescents with VCFS experience major alterations in brain volumes. Significant reduction in gray matter development is attributable to presence of 22q11.2 microdeletion on the maternal chromosome.