Article
KDM6A point mutations cause Kabuki syndrome.
Human mutation - 1 Jan 2013
Miyake Noriko, Mizuno Seiji, Okamoto Nobuhiko, Ohashi Hirofumi, Shiina Masaaki, Ogata Kazuhiro, Tsurusaki Yoshinori, Nakashima Mitsuko, Saitsu Hirotomo, Niikawa Norio, Matsumoto Naomichi
Abstract excerpt
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...
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