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Article

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

American journal of human genetics - 5 Jun 2014

Blumenthal Ian, Ragavendran Ashok, Erdin Serkan, Klei Lambertus, Sugathan Aarathi, Guide Jolene R, Manavalan Poornima, Zhou Julian Q, Wheeler Vanessa C, Levin Joshua Z, Ernst Carl, Roeder Kathryn, Devlin Bernie, Gusella James F, Talkowski Michael E

Abstract excerpt

Reciprocal copy-number variation (CNV) of a 593 kb region of 16p11.2 is a common genetic cause of autism spectrum disorder (ASD), yet it is not completely penetrant and can manifest in a wide array of phenotypes. To explore its molecular consequences, we performed RNA sequencing of cerebral cortex from mouse models with CNV of the syntenic 7qF3 region and lymphoblast lines from 34 members of 7 multiplex...

Topics

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Autistic Disorder
Cerebral Cortex
Chromosome Deletion
Chromosome Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Chromosomes, Human, Pair 16

DNA Copy Number Variations

Intellectual Disability

Sequence Analysis, RNA

Source

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Identifiers

PMID: 24906019
DOI: 10.1016/j.ajhg.2014.05.004
PMCID: PMC4121471

Genes

CHD8
EHMT1
FMR1
MECP2
NRXN1
NRXN3
SATB2
TCF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.PMID 24906019Read ↗

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