The DBAS8 case with proband carrying the RPS7 variant and the maternal segregation studies. (A) Case 1 (DBAS8) proband at the age of 16 months. (B) The WGS depth and variant allele fractions (AF) in heterozygous subjects revealed by Emedgene software. (C) The maternally inherited RPS7 variant viewed by raw reads in IGV software. (D) The maternal 3-generation pedigree with RPS7 genotype/phenotypes and cascade eADA testing values superimposed. WT, wild-type.