Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

作者：Bartnik Magdalena; Nowakowska Beata; Derwinska Katarzyna; Wisniowiecka Kowalnik Barbara; Kedzior Marta; Bernaciak Joanna; Ziemkiewicz Kamila; Gambin Tomasz; Sykulski Maciej; Bezniakow Natalia; Korniszewski Lech; Kutkowska Kazmierczak Anna; Klapecki Jakub; Szczaluba Krzysztof; Shaw Chad A; Mazurczak Tadeusz; Gambin Anna; Obersztyn Ewa; Bocian Ewa; Stankiewicz Pawel^*

来源：Journal of Applied Genetics, 2014, 55(1): 125-144.

DOI：10.1007/s13353-013-0181-x

• Copy-number variation
• Microdeletion
• Microduplication
• Chromosomal microarray analysis

We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.

• 出版日期2014-2