| 1 | CDKL5, EIEE2, FOXG1, MECP2, RTT, RTTL1
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| CAGE-defined promoter regions of the genes implicated in Rett Syndrome.
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| Vitezic M, Bertin N, Andersson R, Lipovich L, Kawaji H, Lassmann T, Sandelin A, Heutink P, Goldowitz D, Ha T, Zhang P, Patrizi A, Fagiolini M, Forrest AR, Carninci P, Saxena A.
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| BMC Genomics 15(1):1177. [Epub ahead of print]
2014
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| 2 | FOXG1, PRKD1, RTTL1
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| 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
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| Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J.
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| Eur J Hum Genet 21(5):522-7. doi: 10.1038/ejhg.2012.208. Epub 2012 Sep 12.
2013
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| 3 | FOXG1, RTTL1
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| Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12
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| Goubau C, Devriendt K, Van der Aa N, Crepel A, Wieczorek D, Kleefstra T, Willemsen MH, Rauch A, Tzschach A, de Ravel T, Leemans P, Van Geet C, Buyse G, Freson K.
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| Eur J Hum Genet. Dec;21(12):1349-55. doi: 10.1038/ejhg.2013.86. Epub 2013 May 1. 2013
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| 4 | FOXG1, RTTL1
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| FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.
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| Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, Tanaka H, Miyamoto A.
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| Clin Genet. Dec;82(6):569-73. doi: 10.1111/j.1399-0004.2011.01819.x. Epub 2011 Dec 16. 2012
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| 5 | DEL14Q12, FOXG1, RTTL1
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| The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
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| Kortüm 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.
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| J Med Genet 48(6):396-406. Epub 2011 Mar 25.
2011
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| 6 | FOXG1, RTTL1
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| A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.
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| Le Guen T, Fichou Y, Nectoux J, Bahi-Buisson N, Rivier F, Boddaert N, Diebold B, Héron D, Chelly J, Bienvenu T.
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| Hum Mutat 32(2):E2026-35. doi: 10.1002/humu.21422. Epub 2010 Dec 7.
2011
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| 7 | FOXG1, RTTL1
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| Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
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| Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A.
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| J Med Genet 47(1):49-53. Epub 2009 Jul 2.
2010
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| 8 | FOXG1, RTTL1
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| Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.
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| Philippe C, Amsallem D, Francannet C, Lambert L, Saunier A, Verneau F, Jonveaux P.
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| J Med Genet 47(1):59-65. Epub 2009 Jun 29.
2010
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| 9 | DEL14QP, FOXG1, RTTL1
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| Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
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| Jacob FD, Ramaswamy V, Andersen J, Bolduc FV.
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| Eur J Hum Genet 17(12):1577-81. Epub 2009 Jul 22. Review.PMID: 19623215 2009
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| 10 | FOXG1, RTTL1
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| FOXG1 is responsible for the congenital variant of Rett syndrome.
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| 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.
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| Am J Hum Genet 83(1):89-93. Epub 2008 Jun 19. 2008
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