KDM 6 A point mutations cause K abuki syndrome
N Miyake, S Mizuno, N Okamoto, H Ohashi… - Human …, 2013 - Wiley Online Library
N Miyake, S Mizuno, N Okamoto, H Ohashi, M Shiina, K Ogata, Y Tsurusaki, M Nakashima…
Human mutation, 2013•Wiley Online LibraryABSTRACT K abuki syndrome (KS) is a rare congenital anomaly syndrome characterized by
a unique facial appearance, growth retardation, skeletal abnormalities, and intellectual
disability. In 2010, MLL 2 was identified as a causative gene. On the basis of published
reports, 55–80% of KS cases can be explained by MLL 2 abnormalities. Recently, de novo
deletion of KDM 6 A has been reported in three KS patients, but point mutations of KDM 6 A
have never been found. In this study, we investigated KDM 6 A in 32 KS patients without an …
a unique facial appearance, growth retardation, skeletal abnormalities, and intellectual
disability. In 2010, MLL 2 was identified as a causative gene. On the basis of published
reports, 55–80% of KS cases can be explained by MLL 2 abnormalities. Recently, de novo
deletion of KDM 6 A has been reported in three KS patients, but point mutations of KDM 6 A
have never been found. In this study, we investigated KDM 6 A in 32 KS patients without an …
Abstract
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.
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