A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models

摘要

a Japanese family with multiple individuals affected by schizophrenia. Black symbols represent individuals diagnosed with schizophrenia. b Segregation of the missense mutation (chr12: 132064747; C>T on hg38, p.P2805L in ENST00000389561.7) in EP400 with schizophrenia. c The position of the familial missense mutation in the EP400 gene. d The CaN-XT algorithm in PONDR was used to predict the effect of p.P2805L on the EP400 protein. eEP400 deleterious variants in Japanese individuals with or without schizophrenia. Rare variants are represented by lollipops, and counts of alleles with variants in the cases (top panel) and controls (bottom panel) are shown. Novel variant = novel variant in all databases; ultra-rare variant = variants with MAF < 0.001 in any database; rare variant = variants with 0.001 < MAF < 0.005 in any database.