Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease.
- Resource Type
- Article
- Authors
- Hui, Xiaoying; Yang, Jingmin; Zhang, Jing; Sun, Jinqiao; Wang, Xiaochuan
- Source
- Journal of Clinical Immunology. Nov2022, Vol. 42 Issue 8, p1614-1617. 4p.
- Subject
- *CHRONIC granulomatous disease
*GENETIC variation
- Language
- ISSN
- 0271-9142
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]