作者
Guhan Ram Venkataraman, CHLOE O’CONNELL, Fumiko Egawa, Dorna Kashef-Haghighi, Dennis P Wall
发表日期
2017
图书
PACIFIC SYMPOSIUM ON BIOCOMPUTING 2017
页码范围
521-532
简介
Autism has been shown to have a major genetic risk component; the architecture of documented autism in families has been over and again shown to be passed down for generations. While inherited risk plays an important role in the autistic nature of children, de novo (germline) mutations have also been implicated in autism risk. Here we find that autism de novo variants verified and published in the literature are Bonferroni-significantly enriched in a gene set implicated in synaptic elimination. Additionally, several of the genes in this synaptic elimination set that were enriched in protein-protein interactions (CACNA1C, SHANK2, SYNGAP1, NLGN3, NRXN1, and PTEN) have been previously confirmed as genes that confer risk for the disorder. The results demonstrate that autism-associated de novos are linked to proper synaptic pruning and density, hinting at the etiology of autism and suggesting pathophysiology …
引用总数
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GR Venkataraman, C O'CONNELL, F Egawa… - PACIFIC SYMPOSIUM ON BIOCOMPUTING 2017, 2017