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

American Journal of Medical Genetics. Part a
Filomena Tiziana PapaA Renieri

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.

References

Jul 27, 2001·American Journal of Medical Genetics·R J Gorlin
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Sep 7, 2006·American Journal of Medical Genetics. Part a·Anne-Marie BisgaardFlemming Skovby
Nov 8, 2006·European Journal of Medical Genetics·C PescucciA Renieri

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Citations

Jul 23, 2009·European Journal of Human Genetics : EJHG·Francois Dominique JacobFrancois V Bolduc
Aug 26, 2010·European Journal of Human Genetics : EJHG·Nicola Brunetti-PierriPawel Stankiewicz
Jun 29, 2012·European Journal of Human Genetics : EJHG·Lila AllouChristophe Philippe
Sep 13, 2012·European Journal of Human Genetics : EJHG·Carolyn J EllawayJohn Christodoulou
Sep 25, 2012·Epilepsia·Renzo Guerrini, Elena Parrini
Aug 25, 2010·Neurogenetics·Tangui Le GuenThierry Bienvenu
Oct 22, 2013·Brain & Development·Akira KumakuraDaisuke Hata
Sep 15, 2015·American Journal of Medical Genetics. Part a·Kelly Q McMahonAlex R Paciorkowski
Dec 9, 2008·Biological Psychiatry·Lisa M Monteggia, Ege T Kavalali
Jul 29, 2008·European Journal of Medical Genetics·Maria Antonietta MencarelliAlessandra Renieri
May 20, 2014·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Laurie E Seltzer, Alex R Paciorkowski
Jun 1, 2010·Epigenomics·Christopher WynderMartin L Doughty
Apr 23, 2015·Molecular Cytogenetics·Daniela AlosiNiels Tommerup
Jan 1, 2018·European Journal of Human Genetics : EJHG·Mana M MehrjouyNiels Tommerup
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Nov 7, 2019·Human Mutation·Gali HeimerBruria Ben Zeev
Jul 1, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Diana MitterKnut Brockmann
Dec 12, 2019·Frontiers in Pediatrics·Nuwan C Hettige, Carl Ernst
Jun 17, 2020·European Journal of Human Genetics : EJHG·Susanna CrociIlaria Meloni

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