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Article

Excess of rare, inherited truncating mutations in autism.

Nature genetics - 1 Jun 2015

Krumm Niklas, Turner Tychele N, Baker Carl, Vives Laura, Mohajeri Kiana, Witherspoon Kali, Raja Archana, Coe Bradley P, Stessman Holly A, He Zong-Xiao, Leal Suzanne M, Bernier Raphael, Eichler Evan E

Abstract excerpt

To assess the relative impact of inherited and de novo variants on autism risk, we generated a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants (CNVs) from 2,377 families with autism. We find that private, inherited truncating SNVs in conserved genes are enriched in probands (odds ratio = 1.14, P = 0.0002) in comparison to unaffected siblings, an effect involving significant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25961944
DOI: 10.1038/ng.3303
PMCID: PMC4449286

Genes

CHD8
CUL7
LZTR1
RIMS1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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