Fig. 2: Results of genetic analysis. | Human Genome Variation

Fig. 2: Results of genetic analysis.

From: Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

Fig. 2

a Sanger sequencing indicates overlapping electropherograms due to the 14-bp duplication. b Locations of the BCL11B variants are depicted on the primary structure (modified data from Prasad et al., 2020). The positions of the previously reported BCL11B variants are shown in black. The variant reported in this study is shown in red (in the 4th zinc-finger motif). Most of the variants are located on exon 4. Circles, rhombuses, triangles, and rectangles indicate missense, truncation, nonsense, and splicing mutations, respectively. NH3 N-terminus, COOH C-terminus.

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