Delgado L M, Gutierrez M, Augello B, Fusco C, Micale L, Merla G, Pastene E A
Department of Experimental Genetics, Centro Nacional de Genética Médica (CENAGEM), ANLIS Dr. Carlos G. Malbrán, Buenos Aires, Argentina.
Mol Syndromol. 2013 Mar;4(3):143-7. doi: 10.1159/000347167. Epub 2013 Feb 28.
Williams-Beuren syndrome is a rare multisystem neurodevelopmental disorder caused by a 1.55-1.84-Mb hemizygous deletion on chromosome 7q11.23. The classical phenotype consists of characteristic facial features, supravalvular aortic stenosis, intellectual disability, overfriendliness, and visuospatial impairment. So far, 26-28 genes have been shown to contribute to the multisystem phenotype associated with Williams-Beuren syndrome. Among them, haploinsufficiency of the ELN gene has been shown to cause the cardiovascular anomalies. Identification of patients with atypical deletions has provided valuable information for genotype-phenotype correlation, in which other genes such as LIMK1,CLIP2, GTF2IRD1, or GTF2I have been correlated with specific cognitive profiles or craniofacial features. Here, we report the clinical and molecular characteristics of a patient with an atypical deletion that does not include the GTF2I gene and only partially includes the GTF2IRD1 gene.
威廉姆斯-贝伦综合征是一种罕见的多系统神经发育障碍，由7号染色体长臂11.23区1.55 - 1.84兆碱基的半合子缺失引起。典型表型包括特征性面部特征、主动脉瓣上狭窄、智力障碍、过度友善和视觉空间损害。到目前为止，已有26 - 28个基因被证明与威廉姆斯-贝伦综合征相关的多系统表型有关。其中，ELN基因的单倍剂量不足已被证明会导致心血管异常。非典型缺失患者的鉴定为基因型-表型相关性提供了有价值的信息，其中其他基因如LIMK1、CLIP2、GTF2IRD1或GTF2I已与特定的认知特征或颅面特征相关联。在此，我们报告了一名非典型缺失患者的临床和分子特征，该缺失不包括GTF2I基因，仅部分包括GTF2IRD1基因。
