Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy.

ABSTRACT: Introduction   CEP152 encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. CEP152 mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9. Methods  In this study, we reported a patient diagnosed with epilepsy in Tianjin Children's Hospital. We performed clinical examination and laboratory test, and whole-exome sequencing was performed for the proband's and his parents' peripheral blood. The suspected compound-heterozygous variant in the CEP152 gene was verified by Sanger sequencing and quantitative real-time polymerase chain reaction technology. Results  We discovered three variants-two of them from CEP152 and one from HPD . The

SUBMITTER: Li W 

PROVIDER: S-EPMC10791487 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature