Clinical Report

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

  1. Filomena Tiziana Papa1,
  2. Maria Antonietta Mencarelli1,
  3. Rossella Caselli1,
  4. Eleni Katzaki1,
  5. Katia Sampieri1,
  6. Ilaria Meloni1,
  7. Francesca Ariani1,
  8. Ilaria Longo1,
  9. Angela Maggio2,
  10. Paolo Balestri2,
  11. Salvatore Grosso2,
  12. Maria Angela Farnetani2,
  13. Rosario Berardi2,
  14. Francesca Mari1,
  15. Alessandra Renieri1,*

Article first published online: 14 JUL 2008

DOI: 10.1002/ajmg.a.32413

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 146A, Issue 15, pages 1994–1998, 1 August 2008

Additional Information

How to Cite

Papa, F. T., Mencarelli, M. A., Caselli, R., Katzaki, E., Sampieri, K., Meloni, I., Ariani, F., Longo, I., Maggio, A., Balestri, P., Grosso, S., Farnetani, M. A., Berardi, R., Mari, F. and Renieri, A. (2008), A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. American Journal of Medical Genetics Part A, 146A: 1994–1998. doi: 10.1002/ajmg.a.32413

Author Information

  1. 1

    Medical Genetics Molecular Biology Department, University of Siena, Siena, Italy

  2. 2

    Department of Pediatrics, University of Siena, Italy

*Medical Genetics Molecular Biology Department, University of Siena, Viale Bracci, 2 53100 Siena, Italy.

  1. †

    How to cite this article: Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A. 2008. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. Am J Med Genet Part A 146A:1994–1998.

Publication History

  1. Issue published online: 23 JUL 2008
  2. Article first published online: 14 JUL 2008
  3. Manuscript Accepted: 7 APR 2008
  4. Manuscript Received: 31 OCT 2007

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Keywords:

  • chromosome 14;
  • array-CGH;
  • 14q deletion;
  • Rett-like features;
  • FOXG1B gene

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. © 2008 Wiley-Liss, Inc.

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