Mosaicism and incomplete penetrance of PCDH19 mutations.

ABSTRACT:

Background

Mutations in the PCDH19 gene have mainly been reported in female patients with epilepsy. To date, PCDH19 mutations have been reported in hundreds of females and only in 10 mosaic male epileptic patients with mosaicism.

Objective

We aimed to investigate the occurrence of mosaic PCDH19 mutations in 42 families comprising at least one patient with PCDH19-related epilepsy.

Methods

Two male patients with mosaic PCDH19 variants were identified using targeted next-generation sequencing. Forty female patients with PCDH19 variants were identified by Sanger sequencing and Multiple Ligation Probe Amplification (MLPA). Microdroplet digital PCR was used to quantify the mutant allelic fractions (MAFs) in 20 families with PCDH1

SUBMITTER: Liu A 

PROVIDER: S-EPMC6581080 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature