Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review

Figure 1

(a) Facial appearance of the proband at 23 years of age. Note the broad nasal root, bilateral mild ptosis, down slanted palpebral fissures, and macrocephaly. (b) Facial appearance of the sister at 29 years of age. Note the broad nasal root, posteriorly rotated ears, and macrocephaly. (c) Two-generation pedigree. Shaded symbols designate affected individuals with the heterozygous pathogenic BRPF1 variant c.2420_2433del (p.Q807Lfs27). The arrow indicates the proband. (d) Schematic representation of BRPF1 protein showing different domains and the location of the pathogenic variant identified in our patients. Based on functional domain and location of pathogenic variant, three groups were created for genotype-phenotype correlation study. The figure is adapted from [2].

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