Literature DB >> 8992864

A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma.

O Ijichi1, K Kawakami, Y Matsuda, N Ikarimoto, K Miyata, H Takamatsu, M Tokunaga.   

Abstract

Kabuki make-up syndrome was first reported in 1981 and is characterized by peculiar facies with post natal growth deficiency and mental retardation. Since the first report, approximately 100 cases have been reported, but there have been no reports of tumor development. A case is reported of a patient with Kabuki make-up syndrome who developed malignant lymphoma in his abdomen at the age of 3 years. The tumor was histologically diagnosed as Burkitt's lymphoma and Epstein-Barr virus was detected by in situ hybridization.

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Year:  1996        PMID: 8992864     DOI: 10.1111/j.1442-200x.1996.tb03439.x

Source DB:  PubMed          Journal:  Acta Paediatr Jpn        ISSN: 0374-5600


  8 in total

1.  Cancer-derived UTX TPR mutations G137V and D336G impair interaction with MLL3/4 complexes and affect UTX subcellular localization.

Authors:  Hiroyuki Kato; Kaori Asamitsu; Wendi Sun; Shojiro Kitajima; Naoko Yoshizawa-Sugata; Takashi Okamoto; Hisao Masai; Lorenz Poellinger
Journal:  Oncogene       Date:  2020-02-18       Impact factor: 9.867

2.  Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.

Authors:  Sietse M Aukema; Selina Glaser; Mari F C M van den Hout; Sonja Dahlum; Marinus J Blok; Morten Hillmer; Julia Kolarova; Raf Sciot; Dina A Schott; Reiner Siebert; Constance T R M Stumpel
Journal:  Fam Cancer       Date:  2022-07-19       Impact factor: 2.446

Review 3.  Epigenetic control of the immune system: a lesson from Kabuki syndrome.

Authors:  Stefano Stagi; Anna Virginia Gulino; Elisabetta Lapi; Donato Rigante
Journal:  Immunol Res       Date:  2016-04       Impact factor: 2.829

4.  Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Authors:  Chong Kun Cheon; Young Bae Sohn; Jung Min Ko; Yeoun Joo Lee; Ji Sun Song; Jea Woo Moon; Bo Kyoung Yang; Il Soo Ha; Eun Jung Bae; Hyun-Seok Jin; Seon-Yong Jeong
Journal:  J Hum Genet       Date:  2014-04-17       Impact factor: 3.172

Review 5.  The H3K27me3 demethylase UTX in normal development and disease.

Authors:  Joni Van der Meulen; Frank Speleman; Pieter Van Vlierberghe
Journal:  Epigenetics       Date:  2014-02-21       Impact factor: 4.528

Review 6.  Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies.

Authors:  Elisabetta Di Fede; Paolo Grazioli; Antonella Lettieri; Chiara Parodi; Silvia Castiglioni; Esi Taci; Elisa Adele Colombo; Silvia Ancona; Alberto Priori; Cristina Gervasini; Valentina Massa
Journal:  Front Cell Dev Biol       Date:  2022-09-26

7.  Spinal ependymoma in a patient with Kabuki syndrome: a case report.

Authors:  Davide Roma; Paolo Palma; Rossella Capolino; Lorenzo Figà-Talamanca; Francesca Diomedi-Camassei; Francesca Romana Lepri; Maria Cristina Digilio; Carlo Efisio Marras; Raffaella Messina; Andrea Carai; Franco Randi; Angela Mastronuzzi
Journal:  BMC Med Genet       Date:  2015-09-05       Impact factor: 2.103

Review 8.  Kabuki Syndrome-Clinical Review with Molecular Aspects.

Authors:  Snir Boniel; Krystyna Szymańska; Robert Śmigiel; Krzysztof Szczałuba
Journal:  Genes (Basel)       Date:  2021-03-25       Impact factor: 4.096

  8 in total

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