Genetic analysis supports prediction that spontaneous rare mutations cause half of autism

http://www.eurekalert.org/pub_releases/2015-09/cshl-gas092215.php

Public Release: 22-Sep-2015
Genetic analysis supports prediction that spontaneous rare mutations cause half of autism
Quantitative study identifies 239 genes whose 'vulnerability' to devastating de novo mutation makes them priority research targets
Cold Spring Harbor Laboratory

A team led by researchers at Cold Spring Harbor Laboratory (CSHL) this week publishes in PNAS a new analysis of data on the genetics of autism spectrum disorder (ASD). One commonly held theory is that autism results from the chance combinations of commonly occurring gene mutations, which are otherwise harmless. But the authors' work provides support for a different theory.

They find, instead, further evidence to suggest that devastating "ultra-rare" mutations of genes that they classify as "vulnerable" play a causal role in roughly half of all ASD cases. The vulnerable genes to which they refer harbor what they call an LGD, or likely gene-disruption. These LGD mutations can occur "spontaneously" between generations, and when that happens they are found in the affected child but not found in either parent.

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