De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability

Eur J Med Genet. 2013 Dec;56(12):686-8. doi: 10.1016/j.ejmg.2013.10.003. Epub 2013 Oct 24.

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.

Keywords: Chromosome 1q43; FMN2; FORMIN-2; Intellectual disability.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Formins
  • Gene Deletion*
  • Heterozygote
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Microfilament Proteins / genetics*
  • Nuclear Proteins / genetics*

Substances

  • Fmn2 protein, human
  • Formins
  • Microfilament Proteins
  • Nuclear Proteins