KDM6A Point Mutations Cause Kabuki Syndrome
KDM6A Point Mutations Cause Kabuki Syndrome
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DOI：
10.1002/humu.22229
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发表时间：
2013-01-01
期刊：
影响因子：
3.9
通讯作者：
Matsumoto, Naomichi
中科院分区：
文献类型：
--
作者：
Miyake, Noriko;Mizuno, Seiji;Matsumoto, Naomichi
歌舞伎综合征（KS）是一种罕见的先天性异常综合征，其特征是独特的面部外观，生长迟缓，骨骼异常和智力残疾。2010年，MLL 2被鉴定为致病基因。根据已发表的报告，55-80%的KS病例可以由MLL 2异常解释。最近，在3例KS患者中发现了KDM 6A基因的从头缺失，但尚未发现KDM 6A基因的点突变。我们在三个KS病例中发现了两个无义突变和一个3-bp缺失的KDM 6A。这是首次报道与KS相关的KDM 6A点突变。Hum Mutat 34：108-110，2013年。(C)2012 Wiley Periodicals，Inc.
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. Hum Mutat 34:108-110, 2013. (C) 2012 Wiley Periodicals, Inc.