title: De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability.
abstract: We present the case of a child with mild non-syndromic intellectual disability in whom array genomic hybridization revealed a de novo heterozygous deletion involving only one gene, FMN2. FMN2 encodes FORMIN-2, a member of the formin homology family, which is primarily expressed in the developing and mature brain, and has an important role in cytoskeletal organization and actin nucleation. A heterozygous deletion of FMN2 along with 2 other genes has been recently reported in a boy with non-syndromic intellectual disability. This report provides further support for the important role of FMN2 in brain development and cognition.
authors.affiliation: Division of Pediatric Neurology, Montreal Children's Hospital, McGill University Health Center, Canada.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Almuqbil
authors.forename: Fadi F
authors.initials: FF
authors.lastname: Hamdan
authors.forename: Géraldine
authors.initials: G
authors.lastname: Mathonnet
authors.forename: Bernard
authors.initials: B
authors.lastname: Rosenblatt
authors.forename: Myriam
authors.initials: M
authors.lastname: Srour
mesh_terms: D002648:Child; D005260:Female; D000080865:Formins; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: C587953:Fmn2 protein, human; D000080865:Formins; D008840:Microfilament Proteins; D009687:Nuclear Proteins
keywords: Chromosome 1q43; FMN2; FORMIN-2; Intellectual disability