Fig. 3: A novel allelic disorder caused by biallelic LOF in ABL1. | Nature Communications

Fig. 3: A novel allelic disorder caused by biallelic LOF in ABL1.

From: Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Fig. 3: A novel allelic disorder caused by biallelic LOF in ABL1.

a Pedigree of family F6666 with two similarly affected children and one child affected with Down syndrome. b Schematic representation contrasting the phenotypic differences between monoallelic gain of function and biallelic loss of function variants in ABL1. c–e Clinical photographs showcasing facial dysmorphia in affected individual IV:1. f Photograph showing short fingers in individual IV:1. g Clinical photograph of the similarly affected sister IV:3. h Sanger sequencing showing the homozygous 46 bp duplication in ABL1 in the two affected siblings, which is heterozygous in the parents and brother affected with Down syndrome. Panel (b) was created with BioRender.com.

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