Τίτλος:
Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. Case presentation: 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. © 2016 The Author(s).
Συγγραφείς:
Fryssira, H.
Tsoutsou, E.
Psoni, S.
Amenta, S.
Liehr, T.
Anastasakis, E.
Skentou, C.
Ntouflia, A.
Papoulidis, I.
Manolakos, E.
Chaliasos, N.
Περιοδικό:
Molecular Cytogenetics
Εκδότης:
BioMed Central Ltd.
Λέξεις-κλειδιά:
cetrorelix; chorionic gonadotropin; ranitidine; recombinant follitropin; valproic acid, apraxia; Article; brain asymmetry; brain cyst; case report; child; comparative genomic hybridization; developmental disorder; face dysmorphia; feeding difficulty; female; fertilization in vitro; fluorescence in situ hybridization; focal epilepsy; FOXG1 gene; gastroesophageal reflux; gene; gene deletion; haploinsufficiency; human; infant; intracytoplasmic sperm injection; irritability; microcephaly; muscle hypertonia; muscle hypotonia; newborn; NOVA1 gene; nuclear magnetic resonance imaging; partial monosomy; partial monosomy 14q; preschool child; priority journal; psychomotor retardation; Rett syndrome; seizure; septum pellucidum; strabismus
DOI:
10.1186/s13039-016-0269-1
