Figure 4.
MBD4 is the only mutated DNA repair gene private to 26537. To confirm MBD4 is the most likely candidate for the hypermutation phenotype, we searched for biallelic damaging mutations across 1381 candidate genes for germline hypermutation derived from the literature (Supplemental Table S3). We identified candidate mutations in 23 genes, shown here. MBD4 was the only gene specifically mutated in 26537 and not other parents in the study.
