Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, Dilullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, GŁnel M, Roeder K, Geschwind DH, Devlin B, State MW.
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature.
2012 Apr 4
Comments on News and Primary Papers
Comment by: Patrick Sullivan, SRF Advisor
Submitted 20 April 2012
Posted 23 April 2012
I recommend the Primary Papers
Fascinating papers that likely presage work in the pipeline from multiple groups for schizophrenia. Truly groundbreaking work by some of the best groups in the business. Required reading for those interested in psychiatric genomics.
The identified loci provide important new windows into the neurobiology of ASD.
The results also pertain to the longstanding debate about the nature of ASD: does it result from many individually rare, Mendelian-like variants (potentially a different one in each person) and/or from the summation of the effects of many different common variants of subtle effects?
The multiple rare variant model now seems unlikely for ASD as, contrary to the expectations of some, ASD did not readily resolve into a handful of Mendelian-like diseases. (This comment is of course qualified by the limits of the technologies - which have, however, identified causal mutations for many monogenetic disorders.)
Readers might also want to read Ben Neale's
comments on these papers at the Genomes Unzipped website.
View all comments by Patrick Sullivan