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Fig. 3 | Genome Medicine

Fig. 3

From: Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

Fig. 3

DNM gene overlap and clustered mutations. a Venn diagram comparing genes enriched with LGD DNMs in an NDD cohort [39]. There is considerable sharing across two common NDD phenotypes, which suggests considerable shared genetic etiology underlying ASD and ID/DD. The degree of sharing may be indicative of disease severity, where genes that overlap ID/DD and ASD are more likely to be underlying more severe phenotypes and outcomes. b PTPN11 shows 3D clustering of missense DNMs in NDD patients (reproduced with permission from [5]). The top figure shows the 2D structure of PTPN11 and highlights several key protein domains. The red triangles above the 2D structure indicate the location of the amino acid change caused by missense DNMs and the red stars indicate residues that have been recurrently mutated in an available NDD cohort. The 3D ribbon structure shows clustering of the missense DNM residues near the protein’s substrate binding site [96]. ASD autism spectrum disorder, DD developmental delay, DNM de novo mutation, ID intellectual disability, LGD likely gene-disrupting

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