Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 146A, Issue 15, Pages 1994-1998Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.32413
Keywords
chromosome 14; array-CGH; 14q deletion; Rett-like features; FOXG1B gene
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Funding
- Telethon [GGP06170]
- University of Siena [PAR 2006]
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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. (c) 2008 Wiley-Liss, Inc.
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