FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome

Clinical Genetics

Volumn 82, Issue 6, 2012, Pages 569-573

  Takahashi, S ^a   Matsumoto, N ^a   Okayama, A ^a   Suzuki, N ^a   Araki, A ^a   Okajima, K ^a   Tanaka, H ^b   Miyamoto, A ^b  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

^b Department of Pediatrics   (Japan)

Author keywords

Congenital variant; FOXG1; Microcephaly; Mutation; Rett syndrome

Indexed keywords

CLOBAZAM; METHYL CPG BINDING PROTEIN 2; VALPROIC ACID;

ADULT; ARTICLE; BRUXISM; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CORPUS CALLOSUM; CRYING; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; FEMALE; FOXG1 GENE; FRONTAL LOBE; GENE; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HYPERKINESIA; HYPOPLASIA; IRRITABILITY; JAPANESE; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; MYELINATION; NEUROLOGIC DISEASE; NEWBORN PERIOD; NUCLEAR MAGNETIC RESONANCE IMAGING; PREGNANCY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RETT SYNDROME; SCHOOL CHILD; SCOLIOSIS; SLEEP DISORDER; SPEECH; SPIKE; SPONTANEOUS PLACENTAL DELIVERY; STEREOTYPY; STRABISMUS; TONIC SEIZURE;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BRAIN; DNA MUTATIONAL ANALYSIS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENETIC TESTING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYELIN SHEATH; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; RETT SYNDROME;

EID: 84869084000     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01819.x     Document Type: Article

References (21)

1. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999: 23: 185-188.
2. Neul JL, Kaufmann WE, Glaze DG et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010: 68: 944-950.
3. Hagberg BA, Skjeldal OH. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 1994: 11: 5-11.
4. Webb T, Latif F. Rett syndrome and the MECP2 gene. J Med Genet 2001: 38: 217-223.
5. Shoichet SA, Kunde SA, Viertel P et al. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet 2005: 117: 536-544.
6. Bisgaard AM, Kirchhoff M, Tumer Z et al. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. Am J Med Genet A 2006: 140: 2180-2187.
7. Jacob FD, Ramaswamy V, Andersen J, Bolduc FV. Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. Eur J Hum Genet 2009: 17: 1577-1581.
8. Mencarelli MA, Kleefstra T, Katzaki E et al. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome. Eur J Med Genet 2009: 52: 148-152.
9. Xuan S, Baptista CA, Balas G, Tao W, Soares VC, Lai E. Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres. Neuron 1995: 14: 1141-1152.
10. Hanashima C, Li SC, Shen L, Lai E, Fishell G. Foxg1 suppresses early cortical cell fate. Science 2004: 303: 56-59.
11. Shen Q, Wang Y, Dimos JT et al. The timing of cortical neurogenesis is encoded within lineages of individual progenitor cells. Nat Neurosci 2006: 9: 743-751.
12. Eagleson KL, Schlueter Mc, Fadyen-Ketchum LJ, Ahrens ET et al. Disruption of Foxg1 expression by knock-in of cre recombinase: effects on the development of the mouse telencephalon. Neuroscience 2007: 148: 385-399.
13. Ariani F, Hayek G, Rondinella D et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008: 83: 89-93.
14. Bahi-Buisson N, Nectoux J, Girard B et al. Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics 2010: 11: 241-249.
15. Mencarelli MA, Spanhol-Rosseto A, Artuso R et al. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet. 2010: 47: 49-53.
16. Philippe C, Amsallem D, Francannet C et al. Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. J Med Genet 2010: 47: 59-65.
17. Kortüm F, Das S, Flindt M et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 2011: 48: 396-406.
18. Roche-Martinez A, Gerotina E, Armstrong-Moron J, Sans-Capdevila O, Pineda M. FOXG1, a new gene responsible for the congenital form of Rett syndrome. Rev Neurol 2011: 52: 597-602.
19. Le Guen T, Fichou Y, Nectoux J et al. A missense mutation within the fork-head domain of the forkhead box G1 gene (FOXG1) affects its nuclear localization. Hum Mutat 2011: 32: E2026-E2035.
20. Le Guen T, Bahi-Buisson N, Nectoux J et al. A FOXG1 mutation in a boy with congenital variant of Rett syndrome. Neurogenetics 2011: 12: 1-8.
21. Yao J, Lai E, Stifani S. The winged-helix protein brain factor 1 interacts with groucho and hes proteins to repress transcription. Mol Cell Biol 2001: 21: 1962-1972.