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KDM6A Point Mutations Cause Kabuki Syndrome


  • Communicated by Garry R. Cutting

  • Contract grant sponsors: Ministry of Health, Labour, and Welfare (Japan) (to N.Mi., H.S., and N.Ma.); Japan Science and Technology Agency (to N.Ma.); Strategic Research Program for Brain Sciences from the Ministry of Education, Culture, Sports, Science, and Technology of Japan (to N.Ma.); Japan Society for the Promotion of Science (to N.Mi., H.S., and N.Ma.); Strategic Research Promotion of Yokohama City University (to N.Ma.); Takeda Science Foundation (to N.Mi. and N.Ma.).

Correspondence to: Noriko Miyake, Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3–9 Fukuura, Kanazawa-ku, Yokohama 236–0004, Japan. E-mail: or Naomichi Matsumoto, E-mail:


Kabuki syndrome (KS) is a rare congenital anomaly syndrome characterized by a unique facial appearance, growth retardation, skeletal abnormalities, and intellectual disability. In 2010, MLL2 was identified as a causative gene. On the basis of published reports, 55–80% of KS cases can be explained by MLL2 abnormalities. Recently, de novo deletion of KDM6A has been reported in three KS patients, but point mutations of KDM6A have never been found. In this study, we investigated KDM6A in 32 KS patients without an MLL2 mutation. We identified two nonsense mutations and one 3-bp deletion of KDM6A in three KS cases. This is the first report of KDM6A point mutations associated with KS.