A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
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.
Papa
Filomena Tiziana
FT
Medical Genetics Molecular Biology Department, University of Siena, Siena, Italy.
Mencarelli
Maria Antonietta
MA
Caselli
Rossella
R
Katzaki
Eleni
E
Sampieri
Katia
K
Meloni
Ilaria
I
Ariani
Francesca
F
Longo
Ilaria
I
Maggio
Angela
A
Balestri
Paolo
P
Grosso
Salvatore
S
Farnetani
Maria Angela
MA
Berardi
Rosario
R
Mari
Francesca
F
Renieri
Alessandra
A
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*
C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins