Array CGH analysis of a cohort of Russian patients with intellectual disability

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• 作者：Anna A. Kashevarova ; Lyudmila P. Nazarenko ; Nikolay A. Skryabin ; Olga A. Salyukova ; Nataliya N. Chechetkina ; Ekaterina N. Tolmacheva ; Elena A. Sazhenova ; Pamela Magini ; Claudio Graziano ; Giovanni Romeo ; Vaidutis Ku膷inskas ; Igor N. Lebedev
• 关键词：ABLIM3 ; actin binding LIM protein family ; member 3 ; ACAD10 ; acyl-CoA dehydrogenase family ; member 10 ; ADHD ; attention-deficit hyperactivity disorder ; AFAP1L1 ; actin filament associated protein 1-like 1 ; AGA ; aspartylglucosaminidase ; ASTN1 ; astrotactin 1 ; CASP3 ; caspase 3 ; apoptosis-related cysteine peptidase ; CASP3 ; caspase 3 ; apoptosis-related cysteine peptidase ; CGH ; comparative genomic hybridization ; CHERISH ; grant of European Community's Seventh Framework Programme ; CNS ; central nervous syst
• 刊名：Gene
• 出版年：15 February, 2014
• 年：2014
• 卷：536
• 期：1
• 页码：145-150
• 全文大小：232 K

文摘

The use of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated the identification of many new microdeletion/microduplication syndromes (MMSs). Furthermore, this method has allowed for the identification of copy number variations (CNVs) whose pathogenic role has yet to be uncovered. Here, we report on our application of array CGH for the identification of pathogenic CNVs in 79 Russian children with intellectual disability (ID). Twenty-six pathogenic or likely pathogenic changes in copy number were detected in 22 patients (28%): 8 CNVs corresponded to known MMSs, and 17 were not associated with previously described syndromes. In this report, we describe our findings and comment on genes potentially associated with ID that are located within the CNV regions.