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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

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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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• Miyake N, Mizuno S, Okamoto N, et al. KDM6A point mutations cause Kabuki syndrome. Human Mutation, 34: 108-110, 2013

• 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

• 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

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