title: Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.
abstract: BACKGROUND
  FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of postnatal microcephaly, seizures, hypotonia, developmental delay and corpus callosum agenesis.
  
  
  METHODS
  We report a 6-month-old female infant, born at 38 weeks of gestation after in vitro fertilization, who presented with feeding difficulties, irritability and developmental delay from the first months of life. Microcephaly with bitemporal narrowing, dyspraxia, poor eye contact and strabismus were also noted. At 10 months, the proband exhibited focal seizures and required valproic acid treatment. Array-Comparative Genomic Hybridization revealed a 4.09 Mb deletion in 14q12 region, encompassing the FOXG1 and NOVA1 genes. The proband presented similar feature with patients with 14q12 deletions except for dysgenesis of corpus callosum. Disruption of the NOVA1 gene which promotes the motor neurons apoptosis has not yet been linked to any human phenotypes and it is uncertain if it affects our patient's phenotype.
  
  
  CONCLUSIONS
  Since our patient is the first reported case with deletion of both genes (FOXG1-NOVA1), thorough clinical follow up would further delineate the Congenital Rett-Variant phenotypes.
authors.affiliation: Medical genetics, School of Medicine, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.
authors.forename: H
authors.initials: H
authors.lastname: Fryssira
authors.affiliation: Medical genetics, School of Medicine, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.
authors.forename: E
authors.initials: E
authors.lastname: Tsoutsou
authors.affiliation: Medical genetics, School of Medicine, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.
authors.forename: S
authors.initials: S
authors.lastname: Psoni
authors.affiliation: "Mitera" Maternity Hospital, Athens, Greece.
authors.forename: S
authors.initials: S
authors.lastname: Amenta
authors.affiliation: Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Liehr
authors.affiliation: Hellenic Navy Hospital, Deinokratous 70, Athens, 11521 Greece.
authors.forename: E
authors.initials: E
authors.lastname: Anastasakis
authors.affiliation: "Mitera kai emvrio" Medical centre, Larisa, Greece.
authors.forename: Ch
authors.initials: Ch
authors.lastname: Skentou
authors.affiliation: "Access to Genome" Clinical Laboratory Genetics, Athens Thessaloniki, Greece.
authors.forename: A
authors.initials: A
authors.lastname: Ntouflia
authors.affiliation: "Access to Genome" Clinical Laboratory Genetics, Athens Thessaloniki, Greece.
authors.forename: I
authors.initials: I
authors.lastname: Papoulidis
authors.affiliation: "Access to Genome" Clinical Laboratory Genetics, Athens Thessaloniki, Greece ; Department of Medical Genetics, Binaghi Hospital, University of Cagliari, Cagliari, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Manolakos
authors.affiliation: Child Health Department, University Hospital of Ioannina (UHI), Ioannina, Greece.
authors.forename: N
authors.initials: N
authors.lastname: Chaliasos
keywords: Array-CGH; FOXG1 syndrome; NOVA1; Postnatal microcephaly; Rett syndrome; Seizures