FIGURE 2.

Pedigree and segregation of the PCNT insertion (ins) and deletion (del) variants; father's genotype was reconstructed, A. Schematic of pericentrin A and B isoforms with internal repeats (yellow), coiled‐coil regions (gray) and the PACT domain (blue) and identified PCNT variants. The epitope of the Ab4448 antibody is indicated. B, 30% PCNT mRNA expression in P2's fibroblasts as compared to a healthy control, C. Both mutated PCNT transcripts are expressed in P2's fibroblasts, D. PCNT immunoblot analysis in NP‐40 soluble and insoluble fractions of fibroblast cell lysates from healthy control and P2. In control, pericentrin A and B isoforms of 355 and 378 kDa are detected. Two PCNT‐specific bands were detected in the P2's soluble fraction with apparent molecular weights of ~170 and ~85 kDa, corresponding to the insertion and deletion variants, respectively, E