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Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2 / 中华医学遗传学杂志
Article in Chinese | WPRIM | ID: wpr-772010
Responsible library: WPRO
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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Scalp Dermatoses / Humans / Ectodermal Dysplasia / Child / Limb Deformities, Congenital / Guanine Nucleotide Exchange Factors / Diabetes Mellitus, Type 2 / Genetics / Mutation Type of study: Case report Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2019 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Scalp Dermatoses / Humans / Ectodermal Dysplasia / Child / Limb Deformities, Congenital / Guanine Nucleotide Exchange Factors / Diabetes Mellitus, Type 2 / Genetics / Mutation Type of study: Case report Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2019 Type: Article