KDM6A Point Mutations Cause Kabuki Syndrome

被引：167

作者：

Miyake, Noriko ^{[1
]}

Mizuno, Seiji ^{[2
]}

Okamoto, Nobuhiko ^{[3
,4
]}

Ohashi, Hirofumi ^{[5
]}

Shiina, Masaaki ^{[6
]}

Ogata, Kazuhiro ^{[6
]}

Tsurusaki, Yoshinori ^{[1
]}

Nakashima, Mitsuko ^{[1
]}

Saitsu, Hirotomo ^{[1
]}

Niikawa, Norio ^{[7
]}

Matsumoto, Naomichi ^{[1
]}

机构：

[1] Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan

[2] Cent Hosp Kasugai, Aichi Human Serv Ctr, Dept Pediat, Kasugai, Aichi, Japan

[3] Osaka Med Ctr, Div Med Genet, Izumi, Japan

[4] Res Inst Maternal & Child Hlth, Izumi, Japan

[5] Saitama Childrens Med Ctr, Div Med Genet, Iwatsuki, Saitama, Japan

[6] Yokohama City Univ Grad Sch Med, Dept Biochem, Yokohama, Kanagawa, Japan

[7] Hlth Sci Univ Hokkaido, Res Inst Personalized Hlth Sci, Ishikari, Hokkaido, Japan

来源：

HUMAN MUTATION | 2013年 / 34卷 / 01期

基金：

日本科学技术振兴机构; 日本学术振兴会;

关键词：

Kabuki syndrome; KDM6A; point mutations; chromosome X; RING CHROMOSOME-X; MAKE-UP-SYNDROME; MENTAL-RETARDATION; DEMETHYLATION; EXPRESSION; FEATURES; EARS; MLL2; UTX;

D O I：

10.1002/humu.22229

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：108 / 110

页数：3

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