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

被引：40

作者：

Kashevarova, Anna A. ^{[1
]}

Nazarenko, Lyudmila P. ^{[1
]}

Skryabin, Nikolay A. ^{[1
]}

Salyukova, Olga A. ^{[1
]}

Chechetkina, Nataliya N. ^{[1
]}

Tolmacheva, Ekaterina N. ^{[1
]}

Sazhenova, Elena A. ^{[1
]}

Magini, Pamela ^{[2
]}

Graziano, Claudio ^{[2
]}

Romeo, Giovanni ^{[2
]}

Kucinskas, Vaidutis ^{[3
]}

Lebedev, Igor N. ^{[1
]}

机构：

[1] Inst Med Genet, Tomsk, Russia

[2] Univ Bologna, Bologna, Italy

[3] Vilnius Univ, Dept Human & Med Genet, Vilnius, Lithuania

来源：

GENE | 2014年 / 536卷 / 01期

关键词：

Intellectual disability; Array comparative genomic hybridization (array CGH); Copy number variation (CNV); NERVOUS-SYSTEM; MENTAL-RETARDATION; BRAIN; GENE; CELLS; REARRANGEMENTS; INDIVIDUALS; EXPRESSION; DISORDERS; NEURONS;

D O I：

10.1016/j.gene.2013.11.029

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2013 Elsevier B.V. All rights reserved.

引用

收藏

页码：145 / 150

页数：6

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