A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features
✍ Scribed by Filomena Tiziana Papa; Maria Antonietta Mencarelli; Rossella Caselli; Eleni Katzaki; Katia Sampieri; Ilaria Meloni; Francesca Ariani; Ilaria Longo; Angela Maggio; Paolo Balestri; Salvatore Grosso; Maria Angela Farnetani; Rosario Berardi; Francesca Mari; Alessandra Renieri
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 210 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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✦ Synopsis
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.