Figure 1

An heterozygous FA2H deletion was identified with the Human 1 M-Duo SNP array from Illumina in the patient AUR139_7. The heterozygous deletion, inherited from the mother and shared by an affected sibling, spans 167.1 kb on chromosome 16q22.3-q23.1, and included FA2H, MLKL and the first two exons of RFWD3. The upper plot shows Log R Ratio (in red) and B allele frequency (in green). QuantiSNP score is represented with a blue line and indicates the deletion size. One heterozygous deletion was previously referenced in the Database of Genomic Variants (chr16:73304298-73370177_hg18 variation_49753) and reported in 3/2026 children from the CHOP cohort. Three patients with developmental delay are reported in DECIPHER (https://decipher.sanger.ac.uk): two carried a deletion (ID: 1694, del chr16:73196749-73363966_hg18; ID: 253240, chr16:71201202-88651780_hg18) and one a duplication (ID: 2564, chr16:72853856-74355880_hg18). Red bars are deletions, and blue bars are duplications.