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Article

Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.

American journal of medical genetics. Part A - 1 Sept 2010

Mefford Heather C, Shafer Neil, Antonacci Francesca, Tsai Jesse M, Park Sarah S, Hing Anne V, Rieder Mark J, Smyth Matthew D, Speltz Matthew L, Eichler Evan E, Cunningham Michael L

Abstract excerpt

Little is known about genes that underlie isolated single-suture craniosynostosis. In this study, we hypothesize that rare copy number variants (CNV) in patients with isolated single-suture craniosynostosis contain genes important for cranial development. Using whole genome array comparative genomic hybridization (CGH), we evaluated DNA from 186 individuals with single-suture craniosynostosis for submicroscopic...

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Identifiers

PMID: 20683987
DOI: 10.1002/ajmg.a.33557
PMCID: PMC3104131

Genes

RUNX2
TWIST1

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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