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

作者：Kashevarova Anna A^*; Nazarenko Lyudmila P; Skryabin Nikolay A; Salyukova Olga A; Chechetkina Nataliya N; Tolmacheva Ekaterina N; Sazhenova Elena A; Magini Pamela; Graziano Claudio; Romeo Giovanni; Kucinskas Vaidutis; Lebedev Igor N

来源：Gene, 2014, 536(1): 145-150.

DOI：10.1016/j.gene.2013.11.029

• Intellectual disability
• Array comparative genomic hybridization (array CGH)
• Copy number variation (CNV)

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.

• 出版日期2014-2-15
• 单位河北医科大学