Figure 6. Abnormal vesiculation at the Golgi apparatus is a common cellular phenotype in achondrogenesis 1A (ACG1A).

(A) Transmission electron microscopy of patient and control fibroblasts; ACG1A_1 carries the homozygous LBR mutation described in this study, ACG1A_2 and 3 bear biallelic mutations of TRIP11; CTL_3 is representative of 3 matched wild-type controls (n = 3). Red arrowheads mark large vesicular profiles, blue arrowheads normal Golgi stacks in ACG1A_1 and control cells. Scale bar: 500 nm. (B) Quantification of cells with abnormal vesiculation, defined as peri-Golgi circular profiles with a diameter of >100 nm (red bars) compared with cells with normal Golgi morphology (blue bars); the y axis shows the percentage of respective phenotypes, and the individual cell counts are indicated above the bars. The significance of differences in the number of cells with large vesicular profiles was compared using a χ² test; **P < 0.01; ***P < 0.001.