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Article

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

American journal of medical genetics. Part A - 1 Jul 2011

Lesca Gaetan, Till Marianne, Labalme Audrey, Vallee Dominique, Hugonenq Catherine, Philip Nicole, Edery Patrick, Sanlaville Damien

Abstract excerpt

We report on a novel Xq11.11 microdeletion in a patient presenting with severe mental retardation (MR), focal epilepsy, tall stature, macrocephaly, and dysmorphism. This 1.3 Mb deletion, identified using array CGH, includes a single gene with known function-ARHGEF9-plus 1 gene with unknown function and three putative genes. ARHGEF9 encodes collybistin (Cb) that plays an important role in the localization of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21626670
DOI: 10.1002/ajmg.a.34004

Genes

ARHGEF9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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