Dysregulation of FOXG1 pathway in a 14q12 microdeletion case

American Journal of Medical Genetics, Part A

Volumn 161, Issue 12, 2013, Pages 3072-3077

  Perche, Olivier ^a,b,c   Haddad, Georges ^d   Menuet, Arnaud ^a,b   Callier, Patrick ^e   Marcos, Mélanie ^a,b   Briault, Sylvain ^a,b,c   Laudier, Béatrice ^a,b,c  

^a CNRS   (France)

^b UNIVERSITÉ D'ORLÉANS   (France)

^c Regional Hospital   (France)

^d Blois Hospital   (France)

^e DIJON UNIVERSITY HOSPITAL   (France)

Author keywords

14q12 microdeletion; FOXG1; FOXG1 pathway

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 14Q12 MICRODELETION; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; DEVELOPMENTAL GENE; DOWN REGULATION; EXON; FIBROBLAST; FOXG1 GENE; FOXG1 SYNDROME; GENE DOSAGE; GENE EXPRESSION; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL LINE; MALE; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; TRANSCRIPTOMICS;

14Q12 MICRODELETION; FOXG1; FOXG1 PATHWAY;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM; FORKHEAD TRANSCRIPTION FACTORS; GENE EXPRESSION REGULATION; HUMANS; INTELLECTUAL DISABILITY; MALE; NERVE TISSUE PROTEINS; SEQUENCE DELETION; SIGNAL TRANSDUCTION; TRANSLOCATION, GENETIC;

EID: 84888064432     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36170     Document Type: Article

References (20)

1. Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A. 2008. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 83:89-93.
2. Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK. 2008. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: Overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 82:304-319.
3. Brinkmeier ML, Potok MA, Cha KB, Gridley T, Stifani S, Meeldijk J, Clevers H, Camper SA. 2003. TCF and Groucho-related genes influence pituitary growth and development. Mol Endocrinol 17:2152-2161.
4. Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J. 2012. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. Eur J Hum Genet 21:522-527.
5. Georgala PA, Carr CB, Price DJ. 2011. The role of Pax6 in forebrain development. Dev Neurobiol 71:690-709.
6. Henrichsen CN, Chaignat E, Reymond A. 2009. Copy number variants, diseases and gene expression. Hum Mol Genet 18:R1-R8.
7. Kamnasaran D, O'Brien PC, Schuffenhauer S, Quarrell O, Lupski JR, Grammatico P, Ferguson-Smith MA, Cox DW. 2001. Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes". Am J Med Genet 102:173-182.
8. Katoh M. 2004. Human FOX gene family (review). Int J Oncol 25:1495-1500.
9. Kim SH, Lu HF, Alano CC. 2011. Neuronal Sirt3 protects against excitotoxic injury in mouse cortical neuron culture. PLoS ONE 6:e14731.
10. Kortum F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB. 2011. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 48:396-406.
11. Laumonnier F, Roger S, Guerin P, Molinari F, M'Rad R, Cahard D, Belhadj A, Halayem M, Persico AM, Elia M, Romano V, Holbert S, Andres C, Chaabouni H, Colleaux L, Constant J, Le Guennec JY, Briault S. 2006. Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation. Am J Psychiatry 163:1622-1629.
12. Perche O, Laudier B, Menuet A, Odent S, Laumonnier F, Briault S. 2012. FG syndrome: The FGS2 locus revisited. Am J Med Genet Part A 158A:1489-1492.
13. Perrin A, Douet-Guilbert N, Laudier B, Couet ML, Guerif F, Royere D, Le Bris MJ, De Braekeleer M, Morel F. 2007. Meiotic segregation in spermatozoa of a 45, XY, -14, der(18)t(14;18)(q11;p11.3) translocation carrier: A case report. Hum Reprod 22:729-732.
14. Regad T, Roth M, Bredenkamp N, Illing N, Papalopulu N. 2007. The neural progenitor-specifying activity of FoxG1 is antagonistically regulated by CKI and FGF. Nat Cell Biol 9:531-540.
15. Ross DT, Scherf U, Eisen MB, Perou CM, Rees C, Spellman P, Iyer V, Jeffrey SS, Van de Rijn M, Waltham M, Pergamenschikov A, Lee JC, Lashkari D, Shalon D, Myers TG, Weinstein JN, Botstein D, Brown PO. 2000. Systematic variation in gene expression patterns in human cancer cell lines. Nat Genet 24:227-235.
16. Schuffenhauer S, Leifheit HJ, Lichtner P, Peters H, Murken J, Emmerich P. 1999. De novo deletion (14)(q11.2q13) including PA X9: Clinical and molecular findings. J Med Genet 36:233-236.
17. Seoane J, Le HV, Shen L, Anderson SA, Massague J. 2004. Integration of Smad and forkhead pathways in the control of neuroepithelial and glioblastoma cell proliferation. Cell 117:211-223.
18. Tao W, Lai E. 1992. Telencephalon-restricted expression of BF-1, a new member of the HNF-3/fork head gene family, in the developing rat brain. Neuron 8:957-966.
19. Wang CC, Kadota M, Nishigaki R, Kazuki Y, Shirayoshi Y, Rogers MS, Gojobori T, Ikeo K, Oshimura M. 2004. Molecular hierarchy in neurons differentiated from mouse ES cells containing a single human chromosome 21. Biochem Biophys Res Commun 314:335-350.
20. Xuan S, Baptista CA, Balas G, Tao W, Soares VC, Lai E. 1995. Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres. Neuron 14:1141-1152.