Detection of Single-Gene Copy-Number Variations Through High-Resolution Exon-Targeted Chromosomal Microarray Analysis

INTRODUCTION
Disease-causing copy-number variants (CNVs) often encompass large genomic regions affecting multiple contiguous genes. However, they may also affect single protein-coding and disease-associated genes, causing Mendelian disorders. Genic CNVs are usually challenging to detect due to their small size. Herein, clinically relevant CNVs affecting single protein-coding genes captured by high-resolution exon-targeted chromosomal microarray analysis (CMA) are investigated.