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首页> 外文期刊>Molecular syndromology >Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil
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Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil

机译：来自巴西中部的两名特发性智力障碍女孩的库伦·德弗里斯综合症的分子特征

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Koolen de Vries syndrome (KDVS; MIM 610443) is a genomic disorder caused by a recurrent microdeletion derived from nonallelic homologous recombination mediated by flanking segmental duplications. Clinical manifestations of this syndrome are characterized by intellectual disability, hypotonia, a friendly behavior, distinctive facial features, and epilepsy. Herein, we report a case of 2 girls who revealed global developmental delay, mild facial dysmorphisms, friendly behavior, and epileptic seizure with a de novo 17q21.31 microdeletion detected by chromosomal microarray analysis (CMA). Conventional cytogenetics analysis by GTG-banding showed a female karyotype 46,XX for both girls. CMA revealed a microdeletion spanning approximately 500 kb in 17q21.31 in both girls, encompassing the following genes: CRHR1, MGC57346, CRHR1-IT1, MAPT-AS1, SPPL2C, MAPT, MAPT-IT1, STH, and KANSL1. Haploinsufficiency of one or more of these genes within the deleted region is the most probable cause of the probands' phenotype and is responsible for the phenotype seen in KDVS. CMA is a powerful diagnostic tool and an effective method to identify the de novo 17q21.31 microdeletion associated with KDVS in our probands.
机译：Koolen de Vries综合征（KDVS; MIM 610443）是一种基因组疾病，由重复的微缺失引起，该微缺失源自侧翼节段重复介导的非等位基因同源重组。该综合征的临床表现为智力残疾，肌张力低下，友好的行为，独特的面部特征和癫痫。在本文中，我们报告了2个女孩的病例，这些女孩表现出整体发育迟缓，轻度面部畸形，友好行为和癫痫发作，并通过染色体微阵列分析（CMA）检测到从头17q21.31微缺失。通过GTG谱带进行的常规细胞遗传学分析显示，两个女孩的女性核型均为46，XX。 CMA在两个女孩的17q21.31中揭示了一个约500 kb的微缺失，包括以下基因：CRHR1，MGC57346，CRHR1-IT1，MAPT-AS1，SPPL2C，MAPT，MAPT-IT1，STH和KANSL1。这些基因中缺失区域中一个或多个的单倍不足是先证者表型的最可能原因，并且是在KDVS中看到的表型的原因。 CMA是一种功能强大的诊断工具，是一种可在先证者中识别与KDVS相关的从头17q21.31微缺失的有效方法。

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