Fig. 2.
Whole-exome sequencing analysis of the consanguineous family. A Filter strategies used in this study. B Sanger sequencing validation of the affected patient and his parents. The arrow indicates the mutation site. CQ-PCR analysis of mRNA expressions of AURKC in the patient and his father. Messenger RNA expression determined by Q-PCR is calculated as a ratio relative to gapdh and expressed relative to his father. D Sequence alignment of AURKC protein in different species. The arrow refers to the mutation site