FIGURE

Figure 1

ID

ZDB-FIG-231003-9

Publication

Ruijmbeek et al., 2023 - Bi-allelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization

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Figure 1

Clinical manifestation of early-onset DCM and family pedigree of affected individuals included in this study.

(A) Echo findings at presentation. Left panel, per family: 2-dimensional, apical 4-chamber echocardiographic image of the probands depicting an enlarged and spherically shaped left ventricle. Middle panel: M-mode echocardiography displaying severely depressed left ventricular (LV) function. Right panel: family pedigrees that were found to segregate biallelic variants in the FLII gene. I and II refer to the first and second generations of the family, respectively. The arrow points to the proband. (B) Alignment of FLII protein sequence across the metazoan kingdom including orthologs from invertebrates and vertebrates. Note the full conservation of the affected amino acid residues and high contextual conservation in a wide range of species ranging from simple multicellular organisms including sponges (Amphimedon queenslandica) and placozoa (Trichoplax adhaerens) to higher species including insects (Drosophila melanogaster), bony fishes (Danio rerio), rodents (Mus musculus), and primates (Homo sapiens) illustrating functional significance.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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