CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.

Eric Deneault,Muhammad Faheem,Tadeo Thompson,James Ellis,Song Sun,Frederick P Roth,Leon Chalil,Alina Piekna,Vickie Kwan,Ryan Kc Yuen,Wei Wei,Deivid C Rodrigues,Peter Pasceri,Sean H White,Stephen W Scherer,Karun K Singh,Susan Walker,Jennifer L Howe

doi:10.7554/elife.40092

Abstract

This article has been through an editorial process in which authors decide how to respond to the issues raised during peer review. The Reviewing Editor's assessment is that all the issues have been addressed (see decision letter).

Highlights

The past two decades of research has determined autism spectrum disorders (ASD) to be clinically (Fernandez and Scherer, 2017; Jones and Lord, 2013; Mahdi et al, 2018) and genetically
Recent research studying common genetic variants indicates that polygenic contributors may be involved, and these can influence the clinical severity of rare penetrant variants in Autism Spectrum Disorder (ASD) risk genes (Weiner et al, 2017)
The weighted MFR (wMFR) of line 19–2 increased up to nearly 3 Hz at week 8 (Figure 4B) while the CNTN5 family controls stayed around 0.5 Hz (Figure 3B). In this context of a more active cell line, we extended the recordings until week 11, and the hyperactive wMFR of 19–2-CNTN5StopTag/+ was only evident from week 10 (Figure 4B)

Summary

Introduction

The past two decades of research has determined autism spectrum disorders (ASD) to be clinically (Fernandez and Scherer, 2017; Jones and Lord, 2013; Mahdi et al, 2018) and genetically Single high-penetrance genes and copy number variation (CNV)-affected loci, have been implicated as bona fide autism-susceptibility (or risk) genes, none of them show specificity for ASD alone (Malhotra and Sebat, 2012). These genetic alterations are rare in the population (

Results

Discussion

Materials and methods