Zhang Kaihui, Gao Zaifen, Jin Ruifeng, Lyu Yuqiang, Gao Min, Gai Zhongtao, Liu Yi
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Email:
Department of Video EEG Monitoring, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Apr 10;36(4):348-351. doi: 10.3760/cma.j.issn.1003-9406.2019.04.014.
To detect pathogenic mutation of DOCK6 gene in a patient with convulsive seizure and refractory epilepsy.
CytoScan HD-Array and next generation sequencing were used to detect the potential mutation in the patient.
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.
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.
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