Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti

Abstract

Through genome sequencing, we identified novel structural variants in the IKBKG gene in two patients affected by incontinentia pigmenti (IP). As a large proportion of patients with IP do not have a molecular diagnosis, new variants remain to be identified. Emerging technologies, such as long-read sequencing, hold promise for further advancing the molecular diagnosis of IP.