井藤　奈央子    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Assistant Professor
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Journal	Formal name：American journal of medical genetics. Part A Abbreviation：Am J Med Genet A ISSN code：15524833/15524825
Domestic / Foregin	Foregin
Volume, Issue, Page	161A(9),pp.2234-43
Author and coauthor	Miyake Noriko, Koshimizu Eriko, Okamoto Nobuhiko, Mizuno Seiji, Ogata Tsutomu, Nagai Toshiro, Kosho Tomoki, Ohashi Hirofumi, Kato Mitsuhiro, Sasaki Goro, Mabe Hiroyo, Watanabe Yoriko, Yoshino Makoto, Matsuishi Toyojiro, Takanashi Jun-ichi, Shotelersuk Vorasuk, Tekin Mustafa, Ochi Nobuhiko, Kubota Masaya, Ito Naoko, Ihara Kenji, Hara Toshiro, Tonoki Hidefumi, Ohta Tohru, Saito Kayoko, Matsuo Mari, Urano Mari, Enokizono Takashi, Sato Astushi, Tanaka Hiroyuki, Ogawa Atsushi, Fujita Takako, Hiraki Yoko, Kitanaka Sachiko, Matsubara Yoichi, Makita Toshio, Taguri Masataka, Nakashima Mitsuko, Tsurusaki Yoshinori, Saitsu Hirotomo, Yoshiura Ko-ichiro, Matsumoto Naomichi, Niikawa Norio
Publication date	2013/09
Summary	Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in MLL2 and KDM6A cause Kabuki syndrome. We screened 81 individuals with Kabuki syndrome for mutations in these genes by conventional methods (n = 58) and/or targeted resequencing (n = 45) or whole exome sequencing (n = 5). We identified a mutation in MLL2 or KDM6A in 50 (61.7%) and 5 (6.2%) cases, respectively. Thirty-five MLL2 mutations and two KDM6A mutations were novel. Non-protein truncating-type MLL2 mutations were mainly located around functional domains, while truncating-type mutations were scattered through the entire coding region. The facial features of patients in the MLL2 truncating-type mutation group were typical based on those of the 10 originally reported patients with Kabuki syndrome; those of the other groups were less typical. High arched eyebrows, short fifth finger, and hypotonia in infancy were more frequent in the MLL2 mutation group than in the KDM6A mutation group. Short stature and postnatal growth retardation were observed in all individuals with KDM6A mutations, but in only half of the group with MLL2 mutations.
DOI	10.1002/ajmg.a.36072
PMID	23913813