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Article

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

Nature - 16 May 2012

Golzio Christelle, Willer Jason, Talkowski Michael E, Oh Edwin C, Taniguchi Yu, Jacquemont Sébastien, Reymond Alexandre, Sun Mei, Sawa Akira, Gusella James F, Kamiya Atsushi, Beckmann Jacques S, Katsanis Nicholas

Abstract excerpt

Copy number variants (CNVs) are major contributors to genetic disorders. We have dissected a region of the 16p11.2 chromosome--which encompasses 29 genes--that confers susceptibility to neurocognitive defects when deleted or duplicated. Overexpression of each human transcript in zebrafish embryos identified KCTD13 as the sole message capable of inducing the microcephaly phenotype associated with the 16p11.2...

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Share to Chromosomes, Human, Pair 16
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22596160
DOI: 10.1038/nature11091
PMCID: PMC3366115

Genes

KCTD13

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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