Beckwith Weidemann Syndrome: A Behavioral Phenotype-Genotype Study
Beckwith Weidemann Syndrome: A Behavioral Phenotype-Genotype Study
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DOI：
10.1002/ajmg.b.30729
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发表时间：
2008-10-05
影响因子：
2.8
通讯作者：
Maher, Eamonn R.
中科院分区：
文献类型：
--
作者：
Kent, Lindsey;Bowdin, Sarah;Maher, Eamonn R.
神经行为缺陷已被报道在人类印迹疾病，如Prader-Willi综合征和Angelman综合征和印迹基因往往涉及神经发育过程。Beckwith-Wiedemann综合征（BWS）是一种典型的人类印记疾病，以产前和产后过度生长和各种发育异常为特征。由于BWS的神经发育方面以前没有被详细研究，我们进行了一项基于问卷的神经行为调查的87名儿童BWS。一个比预期更大的比例的儿童表现出异常分数的情绪和行为困难的措施。此外，6.8%的儿童被诊断患有自闭症谱系障碍（ASD）。6例BWS合并ASD患儿中4例染色体正常，ASD发生于UPD和印迹中心2缺陷患儿。这些发现表明11p15.5印迹基因簇在ASD中的潜在作用，并表明需要进一步研究BWS的神经行为表型。(C)2008 Wiley-Liss，Inc.
Neurobehavioral defects have been reported in human imprinting disorders such as Prader-Willi syndrome and Angelman syndrome and imprinted genes are often implicated in neuro-development processes. Beckwith-Wiedemann syndrome (BWS) is a classical human imprinting disorder characterized by prenatal and postnatal overgrowth and variable developmental anomalies. As neurodevelopmental aspects of BWS have not previously been studied in detail, we undertook a questionnaire based neurobehavioral survey of 87 children with BWS. A greater than expected proportion of children demonstrated abnormal scores on measures of emotional and behavioral difficulties. In addition, 6.8% of children had been diagnosed with an autistic spectrum disorder (ASD). 4/6 BWS children with ASD had normal chromosomes and ASD occurred in children with UPD and imprinting center 2 defects. These findings suggest a potential role for the 11p15.5 imprinted gene cluster in ASD and indicate a need for further investigations of neurobehavioral phenotypes in BWS. (C) 2008 Wiley-Liss, Inc.