[Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(4): 348-351, 2019 Apr 10.
Article
en Zh
| MEDLINE
| ID: mdl-30950023
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Dermatosis del Cuero Cabelludo
/
Displasia Ectodérmica
/
Deformidades Congénitas de las Extremidades
/
Factores de Intercambio de Guanina Nucleótido
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article