Objective To detect pathogenic mutation of DOCK6 gene in a patient with convulsive seizure and refractory epilepsy. Methods CytoScan HD-Array and next generation sequencing were used to detect the potential mutation in the patient. Results The proband has carried compound heterozygous mutations of c. 188C>T (p.Arg63Gln) and c. 5374C>T (p.Glu1792Lys) of the DOCK6 gene, which were respectively inherited from his mother and father. Neither mutation was reported previously. Bioinformatic analysis indicated that the two amino acids are highly conserved. According to the ACMG guidelines, the c. 188C>T mutation was predicted as likely pathogenic, while the c. 5374C>T mutation was of uncertain significance. Conclusion The compound heterozygous mutations of c. 188C>T (p.Arg63Gln) and c. 5374C>T (p.Glu1792Lys) of the DOCK6 gene may underlie the disease in this patient.
Chinese Journal of Medical Genetics