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Abstract：
Williams-Beurens syndrome (WBS) is a rare genetic disorder caused by a recurrent 7q11.23 microdeletion. Clinical characteristics include typical facial dysmorphisms, weakness of connective tissue, short stature, mild to moderate intellectual disability and distinct behavioral phenotype. Cardiovascular diseases are common due to haploinsufficiency of ELN gene. A few cases of larger or smaller deletions have been reported spanning towards the centromeric or the telomeric regions, most of which included ELN gene. We report on three patients from two unrelated families, presenting with distinctive WBS features, harboring an atypical distal deletion excluding ELN gene. Our study supports a critical role of CLIP2, GTF2IRD1, and GTF2I gene in the WBS neurobehavioral profile and in craniofacial features, highlights a possible role of HIP1 in the autism spectrum disorder, and delineates a subgroup of WBS individuals with an atypical distal deletion not associated to an increased risk of cardiovascular defects.
摘要：
Williams-Beurens综合征（WBS）是一种罕见的遗传性疾病，由反复出现的7q11.23微缺失引起。临床特征包括典型的面部畸形，结缔组织的弱点，身材矮小,轻度至中度智力残疾和不同的行为表型。由于ELN基因的单倍体不足，心血管疾病很常见。据报道，有几例较大或较小的缺失跨越着丝粒或端粒区域，其中大部分包括ELN基因。我们报道了来自两个不相关家庭的三名患者，具有鲜明的WBS特征，具有不包括ELN基因的非典型远端缺失。我们的研究支持CLIP2，GTF2IRD1和GTF2I基因在WBS神经行为特征和颅面特征中的关键作用，强调了HIP1在自闭症谱系障碍中的可能作用，并勾勒出一组WBS患者亚组,这些患者的不典型远端缺失与心血管缺陷风险增加无关.
