Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants

Figures

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  Figure 1. Schematic representation of lamin A transcript and localization of exonic variants identified in this study. * stands for nonsense mutations while = stands for synonymous mutations.

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  Figure 2. (A) Segregation of R189Q in Family 6. (B) Segregation of E317K in Family 14. Arrows indicate the proband. Wt: wild type. * stands for positive patients to Lamin A/C gene (LMNA) variants.

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  Figure 3. (A) Representative immunolabeling for lamin A/C (red) and Prelamin A (red) of WT and DCM HDFs (IV-7, IV-9, and III-2). Nuclei are counterstained with Hoechst 33,342 (blue). Scale bar 20 µm, 100 µm. (B) Percentage of WT and DCM cells with abnormal nuclear irregularities revealed in HDFs patients. Results represent three independent experiments with significant differences between WT and DCM HDFs (** p < 0.01). (C) Bar graphs represent the four parameters relative to nuclear shape (area; circularity; elongation; roundness); they are reported as mean values ± SD (fold DCM vs. WT) of three independent experiments. Significant differences are denoted by the p-value (Student’s two-tailed t-test; * p < 0.05. (D) RT-qPCR of lamin A and C transcripts in WT and DCM HDFs; GAPDH was used as reference gene. Data are from three independent experiments and represented as mean ± SD (* p < 0.05). (E) Densitometric analysis of Western blot performed on WT and DCM HDFs, showing the intensity of the band corresponding to lamin A and C normalized versus β-actin levels. WT densitometric value is the average between two different controls (* p < 0.05; ** p < 0.01). Data are presented as mean ± SD. (F)…