11p14.1 Microdeletions Associated With ADHD, Autism, Developmental Delay, and Obesity
11p14.1 Microdeletions Associated With ADHD, Autism, Developmental Delay, and Obesity
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DOI：
10.1002/ajmg.a.33878
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发表时间：
2011-06-01
影响因子：
2
通讯作者：
Beaudet, Arthur L.
中科院分区：
文献类型：
--
作者：
Shinawi, Marwan;Sahoo, Trilochan;Beaudet, Arthur L.
基因组拷贝数不平衡越来越被认为是智力残疾和行为异常的重要原因。WAGR综合征的典型缺失包括PAX 6和WT 1基因，但较大的缺失与神经行为异常和肥胖有关。我们确定了4名患者重叠间质缺失11p14.1和延长端粒的WAGR关键域。最小重叠的关键染色体区域为11p14.1处的2.3 Mb。这些缺失包括BDNF和LIN 7 C基因，它们参与神经元发育和分化以及突触传递的调节。所有有这种缺失的患者都表现出不同程度的发育迟缓、行为问题和肥胖。我们的数据显示，ADHD，自闭症，发育迟缓和肥胖症与11p14.1缺失高度相关，并为BDNF在肥胖和神经行为问题中的重要作用提供了额外的支持。(C)2011 Wiley-Liss，Inc.
Genomic copy number imbalances are being increasingly identified as an important cause of intellectual disability and behavioral abnormalities. The typical deletion in WAGR syndrome encompasses the PAX6 andWT1 genes, but larger deletions have been associated with neurobehavioral abnormalities and obesity. We identified four patients with overlapping interstitial deletions on 11p14.1 and extending telomeric to the WAGR critical domain. The minimal overlapping critical chromosomal region was 2.3 Mb at 11p14.1. The deletions encompass the BDNF and LIN7C genes that are implicated in the regulation of development and differentiation of neurons and synaptic transmission. All patients with this deletion exhibit variable degrees of developmental delay, behavioral problems, and obesity. Our data show that ADHD, autism, developmental delay, and obesity are highly associated with deletion involving 11p14.1 and provide additional support for a significant role of BDNF in obesity and neurobehavioral problems. (C) 2011 Wiley-Liss, Inc.