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Fig. 1 | Clinical Epigenetics

Fig. 1

From: Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature

Fig. 1

Assessment of affected individual’s craniofacial morphology and peripheral blood DNA methylation profile. A Affected individual displays morphological features evocative of Kabuki syndrome (KS) type 1 including arched and interrupted eyebrows, long and wide-apart palpebral fissures, long eyelashes, flat facial profile, persistence of finger pads, and vanished distal interphalangeal crease of third and fourth fingers. B Face2Gene (https://www.face2gene.com/) and C GestaltMatcher (https://www.gestaltmatcher.org/) artificial intelligence-based next-generation phenotyping tools highlighting KS as the most likely diagnosis based on individual’s frontal photograph. D and E Hierarchical clustering and multidimensional scaling plots indicate the proband (red) has a DNA methylation profile similar to individuals with confirmed KS episignature (blue) and distinct from controls (green). F MVP score, a multiclass supervised classification system capable of discerning between multiple episignatures, showing a methylation signature similar to the KS reference

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Clinical Epigenetics

ISSN: 1868-7083

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