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

2008; Wiley; Volume: 146A; Issue: 15 Linguagem: Inglês

10.1002/ajmg.a.32413

1552-4833

Filomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, Eleni Katzaki, Katia Sampieri, Ilaria Meloni, Francesca Ariani, Ilaria Longo, Angela Maggio, Paolo Balestri, Salvatore Grosso, M. A. Farnetani, Rosario Berardi, Francesca Mari, Alessandra Renieri,

Genomic variations and chromosomal abnormalities

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.