PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency.

ABSTRACT:

Objective

To analyze the genotypes and phenotypes of mosaic male patients with PCDH19-related epilepsy (PCDH19-RE) and explore the correlation between genotype, variant allele frequency (VAF), and phenotypic severity.

Methods

Clinical data and peripheral blood samples of 11 male mosaic patients were collected and analyzed in our study. The VAF of the PCDH19 gene from peripheral blood was quantified using amplicon-based deep sequencing. Additional 20 mosaic male patients with PCDH19-RE were collected from the published literature, with 10 patients whose VAFs of the PCDH19 gene were available for analytic purposes.

Results

In our cohort of 11 patients, 10 variants were identified, and four were novel. The VAF of the PCDH19 gene

SUBMITTER: Chen Y 

PROVIDER: S-EPMC9669318 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature