Fig. 1

Identification and bioinformatic characterization of NBAS biallelic variants. a Schematic representation of gene prioritization and validation strategies applied in this study. NBAS genotypes of two ppHLH families in the discovery stage (b) and three families in the replication stage (c). Closed symbols indicate affected patients, and open symbols indicate unaffected family members. d Schematic diagrams of the genomic location of NBAS. e Distribution of NBAS variants identified in this study (top) and the evolutionary conservation of mutated amino acids in the NBAS protein among different species (bottom). All 52 exons of the NBAS gene (reference sequence NM_015909) and two known protein domains of the NBAS protein are represented. ppHLH, presumed primary HLH; WES, whole-exome sequencing; WGS, whole-genome sequencing