14q12 Microdeletion syndrome and congenital variant of Rett syndrome

Eur J Med Genet. 2009 Mar-Jun;52(2-3):148-52. doi: 10.1016/j.ejmg.2009.03.004. Epub 2009 Mar 19.


Only two patients with 14q12 deletion have been reported to date. Here, we describe an additional patient with a similar deletion in order to improve the clinical delineation of this new microdeletion syndrome. The emerging phenotype is characterized by a Rett-like clinical course with an almost normal development during the first months of life followed by a period of regression. A peculiar facial phenotype is also present and it is characterized by mild dysmorphisms such as downslanting palpebral fissures, bilateral epicanthic folds, depressed nasal bridge, bulbous nasal tip, tented upper lip, everted lower lip and large ears. The relationship between this microdeletion syndrome and the congenital variant of Rett syndrome due to point mutations in one of the genes included in the deleted region, FOXG1, is discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion*
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 14 / genetics*
  • Face / abnormalities
  • Female
  • Forkhead Transcription Factors / genetics
  • Humans
  • Infant
  • Nerve Tissue Proteins / genetics
  • Rett Syndrome / genetics*
  • Syndrome


  • FOXG1 protein, human
  • Forkhead Transcription Factors
  • Nerve Tissue Proteins