Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

doi:10.1371/journal.pgen.1003823

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Article

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

PLoS genetics - 1 Jan 2013

Sajan Samin A, Fernandez Liliana, Nieh Sahar Esmaeeli, Rider Eric, Bukshpun Polina, Wakahiro Mari, Christian Susan L, Rivière Jean-Baptiste, Sullivan Christopher T, Sudi Jyotsna, Herriges Michael J, Paciorkowski Alexander R, Barkovich A James, Glessner Joseph T, Millen Kathleen J, Hakonarson Hakon, Dobyns William B, Sherr Elliott H

Abstract excerpt

Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery effort in 255 ACC, 220 CBLH, and 147 PMG patients, and 2,349 controls. Compared to controls, significantly more ACC, but unexpectedly not CBLH or PMG patients, had rare...

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PMID: 24098143
DOI: 10.1371/journal.pgen.1003823
PMCID: PMC3789824

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