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. 2020 Oct 22;11(11):1238. doi: 10.3390/genes11111238

Figure 1.

Figure 1

Clinical presentation and genetic testing of the proband with a variant in the SYT2 gene: (a) The family tree showing the affected proband and unaffected parents and siblings; (b) Proband showing foot deformity and lower limb wasting; (c) Sanger sequencing results demonstrating the heterozygous c.917C>T missense SYT2 mutation in the proband; (d) Position of the c.917C>T mutation (red) in the SYT2 protein structure. This variant was highly conserved throughout different species. The cytoplasmic C2B domain of SYT2 is highlighted in blue.