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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

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

Figure 2

Representation of WDR62 protein in immortalized lymphocytes. (A) Protein extracts were analyzed with an anti-WDR62 antibody that recognizes amino acids 900–950. Beta-actin was used as a control for equal protein loading. Signals were visualized with enhanced chemiluminescence. WDR62 protein levels in immortalized lymphocytes from the patient were significantly lower than in control cells (n = 3, p 0.0104, Student’s t-test). (B) Centrosomal WDR62 levels were below detection levels when assessed through immunocytology in patient cells using the same antibody.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172