De novo gene disruptions in children on the autistic spectrum.

doi:10.1016/j.neuron.2012.04.009

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Article

De novo gene disruptions in children on the autistic spectrum.

Neuron - 26 Apr 2012

Iossifov Ivan, Ronemus Michael, Levy Dan, Wang Zihua, Hakker Inessa, Rosenbaum Julie, Yamrom Boris, Lee Yoon-Ha, Narzisi Giuseppe, Leotta Anthony, Kendall Jude, Grabowska Ewa, Ma Beicong, Marks Steven, Rodgers Linda, Stepansky Asya, Troge Jennifer, Andrews Peter, Bekritsky Mitchell, Pradhan Kith, Ghiban Elena, Kramer Melissa, Parla Jennifer, Demeter Ryan, Fulton Lucinda L, Fulton Robert S, Magrini Vincent J, Ye Kenny, Darnell Jennifer C, Darnell Robert B, Mardis Elaine R, Wilson Richard K, Schatz Michael C, McCombie W Richard, Wigler Michael

Abstract excerpt

Exome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveal de novo small indels and point substitutions, which come mostly from the paternal line in an age-dependent manner. We do not see significantly greater numbers of de novo missense mutations in affected versus unaffected children, but gene-disrupting mutations (nonsense, splice site, and...

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Identifiers

PMID: 22542183
DOI: 10.1016/j.neuron.2012.04.009
PMCID: PMC3619976

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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