ZFIN Image: Zhang et al., 2022, Figure 1

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Figure Caption

Figure 1

Validation of the mutation. (A) Pedigree information. In this pedigree, filled symbols indicate affected patients with MC. The unfilled symbols indicate unaffected individuals. An oblique line indicates a deceased person. Squares denote males, and circles denote females. M1 represents the c.5255C>G variant (p.Ser1752Ter), and M2 represents the c.4301delA variant (p.Asp1434fs*3). Proband (II:3) is indicated by an arrow. It shows a novel compound heterozygous MPDZ variation, c.4301delA (p.Asp1434fs*3) and c.5255C>G (p.Ser1752Ter). (B) Sanger sequencing identifying the breakpoints at c.4301delA (p.Asp1434fs*3) and c.5255C>G (p.Ser1752Ter). (C) MPDZ is localized on autosome 9p23 and contains 47 exons. (D) Arginine at positions 1752 and 1434 is highly conserved among different species according to proteomic conservation analysis.

Acknowledgments

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