Fig. 2.

a NEK10 protein domains and position of the identified mutation. b Western blot analyses of a nonsense mutation in the NEK10 gene [p.(Tyr1134*)]. Fibroblast cell lysates were subjected to Western blot analyses with anti-NEK10 and anti-GAPDH antibodies (loading control). NEK10 expression (82 kDa) was detected in all samples. A full-length protein size was found in the control sample, while a slightly reduced band size by ~ 4 kDa (pulled down bands) was observed in the affected sibling as compared to control