Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2.
10.3760/cma.j.issn.1003-9406.2019.04.014
- VernacularTitle:一例Adams-Oliver综合征2型患儿的DOCK6基因变异分析
- Author:
Kaihui ZHANG
1
;
Zaifen GAO
2
;
Ruifeng JIN
3
;
Yuqiang LYU
1
;
Min GAO
1
;
Zhongtao GAI
1
;
Yi LIU
1
Author Information
1. Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Email: liuyi-ly@126.com.
2. Department of Video EEG Monitoring, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
3. Department of Neurology, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
- Publication Type:Case Reports
- MeSH:
Child;
Diabetes Mellitus, Type 2;
Ectodermal Dysplasia;
genetics;
Guanine Nucleotide Exchange Factors;
genetics;
Humans;
Limb Deformities, Congenital;
genetics;
Mutation;
Pedigree;
Scalp Dermatoses;
congenital;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(4):348-351
- CountryChina
- Language:Chinese
-
Abstract:
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.
