title: A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
abstract: Mutations in the FOXG1 gene have been shown to cause congenital variant of Rett syndrome. To date, point mutations have been reported only in female patients. We screened the entire coding region of the gene for mutations in 50 boys with congenital encephalopathy, postnatal microcephaly, and complex movement disorders, a clinical picture very similar to that described in girls with FOXG1 mutations. We found one boy carrying the de novo c.256_257dupC frameshift mutation. He presented the association of postnatal microcephaly, severe axial dystonia with severe feeding difficulties with protruding tongue movements during the first year of life that subsequently evolved into dyskinetic movement disorders with hand stereotypies. In contrast to his severe motor impairment, he developed nonverbal communication skills and relative good eye contact. Brain MRI showed frontal gyral simplification with dramatic myelination delay most prominent in both frontal lobes. Altogether the presentation in this male patient is highly reminiscent of that observed in FOXG1-mutated females with the congenital variant of Rett syndrome. This new case confirms the prediction that congenital variant of Rett syndrome should be found also in males, with the characteristic hallmarks consisting of postnatal microcephaly, dyskinetic movement disorder with Rett-like features, i.e., hand stereotypies, and frontal gyral simplification with myelination delay. FOXG1 screening should be considered in individuals with these clinical features.
authors: Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France.
authors: Tangui
authors: T
authors: Le Guen
authors: Nadia
authors: N
authors: Bahi-Buisson
authors: Juliette
authors: J
authors: Nectoux
authors: Nathalie
authors: N
authors: Boddaert
authors: Yann
authors: Y
authors: Fichou
authors: Bertrand
authors: B
authors: Diebold
authors: Isabelle
authors: I
authors: Desguerre
authors: Florence
authors: F
authors: Raqbi
authors: Valérie Cormier
authors: VC
authors: Daire
authors: Jamel
authors: J
authors: Chelly
authors: Thierry
authors: T
authors: Bienvenu
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D009069:Movement Disorders / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D017931:DNA Primers; C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins