Figure 2 | European Journal of Human Genetics

Figure 2

From: Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Figure 2

Localization of ASXL3 variants of all known patients with Bainbridge–Ropers syndrome15 (adapted from Bainbridge et al.2). The nine previously published variants are marked with red bars and references are given in square brackets ([1] subjects 1–4 by Bainbridge et al, [2] the patient by Dinwiddie et al, [3] subjects 1–3 by Srivastava et al. and [4] the patient by Hori et al). Two ASXL3 variants detected in individuals with autism are depicted in gray ([5] De Rubeis et al). The six variants identified in this study (patients 1–6) are depicted by yellow bars. Positions of the 12 exons are marked in light blue/blue. Notably, six of the nine previously published variants as well as two of the newly identified variants (patients 1 and 2) are located in exon 11; 2 mutations described by Srivastava et al,11 and 4 of the 6 mutations newly described in this study (patients 3-6) are located in the last exon 12.

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