Copy number variation analysis of patients with intellectual disability from North-West Spain

Gene
Inés QuintelaFrancisco Barros

Abstract

Intellectual disability (ID) is a complex and phenotypically heterogeneous neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive skills, debuting during the developmental period. In the last decade, microarray-based copy number variation (CNV) analysis has been proved as a strategy particularly useful in the discovery of loci and candidate genes associated with these phenotypes and is widely used in the clinics with a diagnostic purpose. In this study, we evaluated the usefulness of two genome-wide high density SNP microarrays -Cytogenetics Whole-Genome 2.7M SNP array (n=126 patients; Group 1) and CytoScan High-Density SNP array (n=447 patients; Group 2)- in the detection of clinically relevant CNVs in a cohort of ID patients from Galicia (NW Spain). In 159 (27.7%) patients, we detected 186 rare exonic chromosomal imbalances, that were grouped into the following classes: Clinically relevant (67/186; 36.0%), of unknown clinical significance (93/186; 50.0%) and benign (26/186; 14.0%). The 67 pathogenic CNVs were identified in 64 patients, which means an overall diagnostic yield of 11.2%. Overall, we confirmed that ID is a genetically heterogeneous condition and emphasized the importance of us...Continue Reading

Citations

Dec 25, 2019·Neurology. Genetics·Shibalik MisraRussell C Dale
Nov 19, 2019·Genetic Epidemiology·Varun KilaruAlicia K Smith
Nov 30, 2019·Scientific Reports·Tiago Fernando ChavesAngelica Francesca Maris
Jan 19, 2020·European Journal of Medical Genetics·Catia MioGiuseppe Damante
Jun 25, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lance H RodanVandana Shashi

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