title: A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
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.
authors.affiliation: Medical Genetics Molecular Biology Department, University of Siena, Siena, Italy.
authors.forename: Filomena Tiziana
authors.initials: FT
authors.lastname: Papa
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Mencarelli
authors.forename: Rossella
authors.initials: R
authors.lastname: Caselli
authors.forename: Eleni
authors.initials: E
authors.lastname: Katzaki
authors.forename: Katia
authors.initials: K
authors.lastname: Sampieri
authors.forename: Ilaria
authors.initials: I
authors.lastname: Meloni
authors.forename: Francesca
authors.initials: F
authors.lastname: Ariani
authors.forename: Ilaria
authors.initials: I
authors.lastname: Longo
authors.forename: Angela
authors.initials: A
authors.lastname: Maggio
authors.forename: Paolo
authors.initials: P
authors.lastname: Balestri
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.forename: Maria Angela
authors.initials: MA
authors.lastname: Farnetani
authors.forename: Rosario
authors.initials: R
authors.lastname: Berardi
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D009419:Nerve Tissue Proteins / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D016133:Polymerase Chain Reaction; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins