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首页> 外文期刊>Molecular cytogenetics >Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report
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Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report

机译：在吉尔德拉温室综合征和知识分子综合征中遗传伪变截道区域XQ28的重复XQ28：案例报告

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Background:Tourette syndrome (TS) is a complex neurodevelopmental disorder (NDD) characterized by multiple chronic involuntary motor and vocal tics with onset during childhood or adolescence. Most TS patients present with additional comorbidities, typically attention deficit hyperactivity disorder (ADHD), obsessive- compulsive disorder (OCD), autism spectrum disorder (ASD) and intellectual disability (ID). Both TS and ID are genetically complex disorders that likely occur as a result of the effects of multiple genes interacting with other environmental factors. In addition to single gene mutations and chromosomal disorders, copy number variations (CNVs) are implicated across many NDDs and ID and contribute to their shared genetic etiology. Screening of CNVs using microarray-based Comparative Genomic Hybridization (aCGH) is now routinely performed in all subjects with NDD and ID.Case presentation:We report a case of a 12-year-old girl diagnosed with Gilles de la Tourette Syndrome associated to behavior disorders and intellectual disability in particular with regard to language. Array-CGH analysis showed a CNV of a subtelomeric region Xq28 (gain of 260?kb) inherited from the healthy father. The duplication contains two genes, VAMP7 and SPRY3 of the PAR2 pseudoautosomal region. FISH analysis revealed that the duplicated segment is located on the short arm of a chromosome 13, resulting in a trisomy of the region. In the proband the expression levels of the genes evaluated in the peripheral blood sample are comparable both those of the mother and to those of female control subjects.Conclusions:Although the trisomy of the 260?kb region from Xq28 identified in proband is also shared by the healthy father, it is tantalizing to speculate that, together with genetic risk factors inherited from the mother, it may play a role in the development of a form of Tourette syndrome with intellectual disability. This hypothesis is also supported by the fact that both genes present in the duplicated region (VAMP7 and SPRY3) are expressed in the CNS and are implicated in neurotransmission and neurite growth and branching. In addition, similar CNVs have been identified in individuals whose phenotype is associated with autism spectrum disorders or intellectual disability.? The Author(s) 2020.
机译：背景：Tourette综合征（TS）是一种复杂的神经发育障碍（NDD），其特征在于儿童或青春期的发病，其特征是多重慢性无意识的电动机和声带。大多数TS患者存在额外的合并症，通常注意缺陷多动障碍（ADHD），强迫症（OCD），自闭症谱系障碍（ASD）和智力残疾（ID）。 TS和ID都是遗传复杂性疾病，其可能由于多种基因与其他环境因素相互作用而发生的。除了单一基因突变和染色体紊乱外，拷贝数变异（CNV）涉及许多NDDS和ID，并有助于其共同的遗传病因。使用基于微阵列的比较基因组杂交（ACGH）的CNV筛选在所有受试者中均常规进行NDD和ID.CASE介绍：我们举报了一个12岁的女孩被诊断出与行为相关的Gilles de la Tourette综合征的案例特别是关于语言的障碍和智力残疾。阵列-CGH分析显示从健康父亲遗传的子制区域XQ28的CNV（增益为260？KB）。复制含有PAR2假透明孔区域的两个基因，Vamp7和Spry3。鱼类分析显示，重复的段位于染色体13的短臂上，导致该区域的三兆字节。在证书中，在外周血样品中评价的基因的表达水平与母亲和女性对照组的那些相当。结论：尽管在证书中鉴定的XQ28中的260？KB区域的三兆字节也是分享的健康的父亲，它诱人地推测，与母亲继承的遗传危险因素一起诱人，它可能在具有智力残疾的表曲线综合征的发展中发挥作用。该假设还支持该假设，即重复的区域（Vamp7和Spry3）中的两个基因在CNS中表达，并涉及神经递血和神经突生长和分支。此外，已经在其表型与自闭症谱系障碍或智力残疾相关的个体中鉴定了类似的CNV。作者2020年。

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