Kabuki sendromu
Kabuki sendromu 1 (Kabuk1; Niikawa-Kuroki sendromu)
Çoğunlukla spontan (kalıtsal olgular - AD)
Gelişme geriliği
Mikrosefali
Saçlar yoğun
Kaş çıkıntıları kalın-yüksek
Göz kapak anomalileri
Ptosis
Uzun kirpikler
Mavi sklera
Yelken kulaklar
Bebeklerde yineleyen otitis media
İşitme sorunları
Kısa-basık burun sırtı
Filtrum trapezoid
Çukur damak
Yarık damak
Café-au-lait
Deride purpuralar
Konjenital kalp defektleri
Aorta koarktasyonu
Erkeklerde dış genital organ anomalileri
GİS anomalileri
İmmun sistem aksamaları (infeksiyonlar)
Hemolitik anemi
Otoimmun hastalık riski
Parmak anomalileri
Skolyoz
Konjenital kalça çıkığı
Hipotoni
Orta derecede zeka düzeyi
Kabuki sendromu 2 (Kabuk2)
Kalıtsal - XLD
Gelişme geriliği
Mikrosefali
Saçlar yoğun
Kaş çıkıntıları kalın ve yüksek
Göz kapak anomalileri
Strabismus
Uzun kirpikler
Yelken kulaklar
Kısa-basık burun sırtı
Hipodonti
Maloklüzyon
Yarık dudak
Yarık damak
Konjenital kalp defektleri
Erkeklerde dış genital organ anomalileri
İmmun sistem aksamaları (infeksiyonlar)
Parmak anomalileri
Eklemlerde gevşeklik
Psikomotor gerilik
Davranış bozuklukları
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Matsumoto N, Niikawa N. Kabuki make-up syndrome: a review. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2003;117C:57–65, 2003
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White SM, Thompson EM, Kidd A, et al. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. American Journal of Medical Genetics A, 127A: 118-127, 2004
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Genevieve D, Amiel J, Viot G, et al. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. American Journal of Medical Genetics A, 129A: 64-68, 2004
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Schrander-Stumpel CT, Spruyt L, Curfs LM, et al. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. American Journal of Medical Genetics A, 132A:234–243, 2005
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Hoffman JD, Ciprero KL, Sullivan KE, et al. Immune abnormalities are a frequent manifestation of Kabuki syndrome. American Journal of Medical Genetics A, 135A: 278-281, 2005
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Kuniba H, Tsuda M, Nakashima M, et al. Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan (Letter). Journal of Medical Genetics, 45: 479-480, 2008
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Hannibal MC, Buckingham KJ, Ng SB, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. American Journal of Medical Genetics A, 155A:1511–1516, 2011
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Lederer D, Grisart B, Digilio MC, et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. American Journal of Human Genetics, 90: 119-124, 2012
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Miyake N, Mizuno S, Okamoto N, et al. KDM6A point mutations cause Kabuki syndrome. Human Mutation, 34: 108-110, 2013
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Micale L, Augello B, Maffeo C, et al. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Human Mutation, 35: 841-850, 2014
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Lederer, D., Shears, D., Benoit, V., Verellen-Dumoulin, C., Maystadt, I. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. American Journal of Medical Genetics A, 164A: 1289-1292, 2014