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Figure 5 | Orphanet Journal of Rare Diseases

Figure 5

From: Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

Figure 5

Spindle defects in WDR62 mutant patient cells. Subcellular localization of CDK5RAP2 and α-tubulin throughout the cell cycle in immortalized lymphocytes of (A) control and (B) MCPH2 patient. While the spindle apparatus has a regular bipolar form of appearance from prometaphase to telophase in controls, patient cells show abnormal spindle formation with an increase of abnormal misdirected spindles and broad, unfocused microtubules poles. CDK5RAP2 signals are weaker in patient’s cells than in controls. Cells were stained for CDK5RAP2 (red), for α-tubulin (green), and for DNA using DAPI (blue). (C) Quantification results of abnormal spindles and spindle pole distance (n = 115 metaphase lymphoblastoid cells, p < 0.0001, Student’s t-test).

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