FIGURE

Figure 1

ID

ZDB-FIG-221214-159

Publication

Zhang et al., 2022 - Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family

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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.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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