Kent Lindsey, Bowdin Sarah, Kirby Gail A, Cooper Wendy N, Maher Eamonn R
Bute Medical School, University of St. Andrews, St. Andrews, Scotland, UK.
Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1295-7. doi: 10.1002/ajmg.b.30729.
Neurobehavioral defects have been reported in human imprinting disorders such as Prader-Willi syndrome and Angelman syndrome and imprinted genes are often implicated in neurodevelopment 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.
在诸如普拉德-威利综合征和安吉尔曼综合征等人类印记障碍中已报道存在神经行为缺陷，且印记基因常与神经发育过程有关。贝克威思-维德曼综合征（BWS）是一种典型的人类印记障碍，其特征为产前和产后过度生长以及各种发育异常。由于此前尚未对BWS的神经发育方面进行详细研究，我们对87名BWS患儿进行了一项基于问卷的神经行为调查。在情绪和行为困难测量中，表现出异常分数的儿童比例高于预期。此外，6.8%的儿童被诊断患有自闭症谱系障碍（ASD）。4/6患有ASD的BWS患儿染色体正常，且ASD发生在单亲二倍体和印记中心2缺陷的患儿中。这些发现表明11p15.5印记基因簇在ASD中可能发挥作用，并表明有必要进一步研究BWS的神经行为表型。
