caa a22 4500 445364394 CHVBK 20180317142925.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s10048-010-0255-4 doi (NATIONALLICENCE)springer-10.1007/s10048-010-0255-4 A FOXG1 mutation in a boy with congenital variant of Rett syndrome [Elektronische Daten] [Tangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, Nathalie Boddaert, Yann Fichou, Bertrand Diebold, Isabelle Desguerre, Florence Raqbi, Valérie Daire, Jamel Chelly, Thierry Bienvenu] 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. Springer-Verlag, 2010 FOXG1 nationallicence Rett syndrome nationallicence Microcephaly nationallicence Movement disorders nationallicence Le Guen Tangui Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut Bahi-Buisson Nadia Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut Nectoux Juliette Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut Boddaert Nathalie Pediatric Radiology, Necker Enfants Malades Hospital, APHP, Université Paris Descartes, Paris, France aut Fichou Yann Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut Diebold Bertrand Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, APHP, Paris, France aut Desguerre Isabelle Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut Raqbi Florence Department of Genetics and INSERM U781, Necker Enfants Malades Hospital, APHP, Paris Descartes University, Paris, France aut Daire Valérie Department of Genetics and INSERM U781, Necker Enfants Malades Hospital, APHP, Paris Descartes University, Paris, France aut Chelly Jamel Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut Bienvenu Thierry Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut neurogenetics Springer-Verlag 12/1(2011-02-01), 1-8 1364-6745 12:1<1 2011 12 10048 https://doi.org/10.1007/s10048-010-0255-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-010-0255-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Le Guen Tangui Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Bahi-Buisson Nadia Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Nectoux Juliette Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Boddaert Nathalie Pediatric Radiology, Necker Enfants Malades Hospital, APHP, Université Paris Descartes, Paris, France aut NATIONALLICENCE 700 1- Fichou Yann Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Diebold Bertrand Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, APHP, Paris, France aut NATIONALLICENCE 700 1- Desguerre Isabelle Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Raqbi Florence Department of Genetics and INSERM U781, Necker Enfants Malades Hospital, APHP, Paris Descartes University, Paris, France aut NATIONALLICENCE 700 1- Daire Valérie Department of Genetics and INSERM U781, Necker Enfants Malades Hospital, APHP, Paris Descartes University, Paris, France aut NATIONALLICENCE 700 1- Chelly Jamel Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut NATIONALLICENCE 700 1- Bienvenu Thierry Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/1(2011-02-01), 1-8 1364-6745 12:1<1 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer