Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease.

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD). In summary, a heterozygous pathogenic I NCF2 i variant was identified by OGM, and breakpoints were confirmed by long-range PCR and Sanger sequencing. This study reports the utility of OGM to identify the first heterozygous SV deletion of NCF2-CGD (P1). [Extracted from the article]