Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

doi:10.1002/ajmg.a.61793

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Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

American journal of medical genetics. Part A - 1 Oct 2020

Murakami Hiroaki, Tsurusaki Yoshinori, Enomoto Keisuke, Kuroda Yukiko, Yokoi Takayuki, Furuya Noritaka, Yoshihashi Hiroshi, Minatogawa Mari, Abe-Hatano Chihiro, Ohashi Ikuko, Nishimura Naoto, Kumaki Tatsuro, Enomoto Yumi, Naruto Takuya, Iwasaki Fuminori, Harada Noriaki, Ishikawa Aki, Kawame Hiroshi, Sameshima Kiyoko, Yamaguchi Yu, Kobayashi Masahisa, Tominaga Makiko, Ishikiriyama Satoshi, Tanaka Toshiaki, Suzumura Hiroshi, Ninomiya Shinsuke, Kondo Akane, Kaname Tadashi, Kosaki Kenjiro, Masuno Mitsuo, Kuroki Yoshikazu, Kurosawa Kenji

Abstract excerpt

Kabuki syndrome is characterized by a variable degree of intellectual disability, characteristic facial features, and complications in various organs. Many variants have been identified in two causative genes, that is, lysine methyltransferase 2D (KMT2D) and lysine demethylase 6A (KDM6A). In this study, we present the results of genetic screening of 100 patients with a suspected diagnosis of Kabuki syndrome in...

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PMID: 32803813
DOI: 10.1002/ajmg.a.61793

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