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Egyptian Journal of Medical Human Genetics
Fig. 1 | Egyptian Journal of Medical Human Genetics

Fig. 1

From: Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient

Fig. 1

Source: Own elaboration

A Pedigree indicated a de novo variant (III.7) in this family, paternal and maternal ancestry are from different regions B Palpebral ptosis, bilateral epicanthus, blepharophimosis, C Prominent columella, short philtrum, thick vermilion of the lips. D Brachydactyly and decrease in the distal interphalangeal crease of the fourth finger. E Normal function of BRPF1 gene (peregrin). F Haploinsufficiency of BRPF1 produces a reduction of various processes in the brain. BRPF1 = Bromodomain- and PHD finger- containing protein. ING5 = Inhibitor of Growth 5. MEAF6 = Myst/Esa1-associated factor 6. KAT6A/B = Lysine acetyltransferase 6A and 6B. KAT7 (HBO1) = Lysine acetyltransferase 7. H3 = histone 3.

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