Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

Dan Levy, Michael Ronemus, Boris Yamrom, Yoon ha Lee, Anthony Leotta, Jude Kendall, Steven Marks, B. Lakshmi, Deepa Pai, Kenny Ye, Andreas Buja, Abba Krieger, Seungtai Yoon, Jennifer Troge, Linda Rodgers, Ivan Iossifov, Michael Wigler

Research output: Contribution to journalArticlepeer-review

513 Scopus citations


To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied genomic copy-number variation in a large cohort of families with a single affected child and at least one unaffected sibling. We confirm a major contribution from de novo deletions and duplications but also find evidence of a role for inherited " ultrarare" duplications. Our results show that, relative to males, females have greater resistance to autism from genetic causes, which raises the question of the fate of female carriers. By analysis of the proportion and number of recurrent loci, we set a lower bound for distinct target loci at several hundred. We find many new candidate regions, adding substantially to the list of potential gene targets, and confirm several loci previously observed. The functions of the genes in the regions of de novo variation point to a great diversity of genetic causes but also suggest functional convergence.

Original languageEnglish (US)
Pages (from-to)886-897
Number of pages12
Issue number5
StatePublished - Jun 9 2011

ASJC Scopus subject areas

  • Neuroscience(all)


Dive into the research topics of 'Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders'. Together they form a unique fingerprint.

Cite this