[Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2].

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. Based on the ACMG guidelines, the c.188C>T mutation was predicted to be 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 probably underlie the disease in this patient.