Small copy-number variations involving genes of the FGF pathway in differences in sex development

Abstract

Retrospective chromosome microarray analysis of 83 genes within the fibroblast growth factor signaling pathway in 52 patients with heterogeneous differences in sex development (DSD) revealed small copy-number variations (CNVs) in ∼31% (n=26) of investigated genes. Roughly half of these genes (39/83) are ≥50 kb. This study highlights the potential involvement of small CNVs in disrupting normal gene function and dysregulating genes of the FGF pathway associated with DSD.