Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

@article{Bgershausen2016MutationUF,
  title={Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.},
  author={Nina B{\"o}gershausen and Vincent Gatinois and Vera Riehmer and H{\"u}lya Kayserili and Jutta Becker and Michaela Thoenes and Pelin {\"O} Şimşek-Kiper and Mouna Barat-Houari and Nursel H. Elçioglu and Dagmar Wieczorek and Sigrid Tinschert and Guillaume Sarrabay and Tim Matthias Strom and Aur{\'e}lie C Fabre and Gareth Baynam and Elodie Sanchez and G. G. V. Nuernberg and Umut Altunoğlu and Yline Capri and Bertrand Isidor and Didier Lacombe and Carole Corsini and Val{\'e}rie Cormier-Daire and D. Sanlaville and F. Giuliano and Kim-Hanh Le Quan Sang and Honorine Kayirangwa and Peter N{\"u}rnberg and Thomas Meitinger and Koray Boduroğlu and Barbara Zoll and Stanislas Lyonnet and Andreas Tzschach and Alain Verloes and Nataliya Di Donato and Isabelle Touitou and Christian Netzer and Yun Li and David Genevi{\`e}ve and Goekhan Yigit and Bernd Wollnik},
  journal={Human mutation},
  year={2016},
  volume={37 9},
  pages={
          847-64
        }
}
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1… CONTINUE READING

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