PCDH19-related epilepsy in two mosaic male patients

Epilepsia
A TerraccianoN Specchio

Abstract

PCDH19 gene mutations have been recently associated with an epileptic syndrome characterized by focal and generalized seizures. The PCDH19 gene (Xq22.1) has an unusual X-linked inheritance with a selective involvement for female subjects. A cellular interference mechanism has been hypothesized and male patients can manifest epilepsy only in the case of a mosaicism. So far about 100 female patients, and only one symptomatic male have been described. Using targeted next generation sequencing (NGS) approach we found a PCDH19 point mutation in two male patients with a clinical picture suggestive of PCDH19-related epilepsy. The system allowed us to verify that the two c.1352 C>T; p.(Pro451Leu) and c.918C>G; p.(Tyr306*) variants occurred in mosaic status. Mutations were confirmed by Sanger sequencing and quantified by real-time polymerase chain reaction (PCR). Up to now, the traditional molecular screening for PCDH19-related epilepsy has been targeted to all females with early onset epilepsy with or without cognitive impairment. Male patients were generally excluded. We describe for the first time two mosaic PCDH19 point mutations in two male patients with a clinical picture suggestive of PCDH19-related epilepsy. This finding opens n...Continue Reading

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Citations

Oct 6, 2018·Journal of Medical Genetics·Aijie LiuYuehua Zhang
May 16, 2018·NPJ Genomic Medicine·Stephanie OatesDeb K Pal
Aug 25, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Mary Beth StosserDianalee A McKnight
Nov 13, 2019·Brain and Behavior·Li YangBaomin Li
Dec 14, 2019·Neurogenetics·Simona PellacaniFilippo Maria Santorelli
Feb 28, 2020·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·E L DadaliI V Kanivets
Jan 30, 2018·Epilepsia·Lacey SmithAnnapurna Poduri
Sep 19, 2020·Epilepsia·Jennifer RakotomamonjyAlicia Guemez-Gamboa
Jul 3, 2017·Neurogenetics·I M de LangeE H Brilstra
Nov 22, 2017·The Journal of Comparative Neurology·Anne Schaarschuch, Nicole Hertel
May 4, 2017·American Journal of Medical Genetics. Part a·Dorian PerezLuis Rohena
Feb 15, 2020·Pediatric Neurology·Debopam Samanta
Jul 3, 2021·Journal of Clinical Medicine·Rossella BorghiClaudia Compagnucci

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