Figure 2.

Schematic of representative ELANE mutations and suggested therapeutic strategies

(A) Linear representation of ELANE’s five exons and four introns showing locations of representative heterozygous mutations associated with SCN depicted as black inverted triangles. Based on Makaryan et al.⁴ (B) Schematics of three identified SNPs (white inverted triangles) associated with the majority of ELANE mutations and a common cut site (gray inverted triangle), based on which three allele-specific sgRNA guides and a constant guide were designed representing three monoallelic excision strategies.