A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features

Am J Med Genet A. 2008 Aug 1;146A(15):1994-8. doi: 10.1002/ajmg.a.32413.

Abstract

The present report describes a 7-year-old girl with a de novo 3 Mb interstitial deletion of chromosome 14q12, identified by oligo array-CGH. The region is gene poor and contains only five genes two of them, FOXG1B and PRKD1 being deleted also in a previously reported case with a very similar phenotype. Both patients present prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears and a clinical course like Rett syndrome, including normal perinatal period, postnatal microcephaly, seizures, and severe mental retardation. FOXG1B (forkhead box G1B) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 14*
  • Craniofacial Abnormalities / genetics*
  • Female
  • Forkhead Transcription Factors / genetics
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Nerve Tissue Proteins / genetics
  • Oligonucleotide Array Sequence Analysis
  • Phenotype
  • Polymerase Chain Reaction
  • Rett Syndrome / genetics*

Substances

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