Tatton-Brown-Rahman Syndrome Due to 2p23 Microdeletion

被引：25

作者：

Okamoto, Nobuhiko ^{[1
,2
]}

Toribe, Yasuhisa ^{[3
]}

Shimojima, Keiko ^{[4
]}

Yamamoto, Toshiyuki ^{[4
]}

机构：

[1] Osaka Med Ctr, Dept Med Genet, Osaka, Japan

[2] Res Inst Maternal & Child Hlth, Osaka, Japan

[3] Toribe Clin, Toyonaka, Osaka, Japan

[4] Tokyo Womens Med Univ, Inst Integrated Med Sci, Tokyo, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2016年 / 170卷 / 05期

关键词：

DNMT3A; overgrowth syndrome; Tatton-Brown-Rahman syndrome; NOVO INTERSTITIAL DELETION; INTELLECTUAL DISABILITY; OVERGROWTH; DNMT3A;

D O I：

10.1002/ajmg.a.37588

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Tatton-Brown-Rahman syndrome is a new overgrowth syndrome due to DNMT3A (DNA cytosine 5 methyltransferase 3A) mutations. Mutation carriers show a distinctive facial appearance, intellectual disability, and increased height. We report a patient with overgrowth who showed submicroscopic deletion of chromosome 2p23 including DNMT3A. The deletion was detected by array-CGH. He showed moderate ID and distinctive facial gestalt. His clinical features were consistent with those of Tatton-Brown-Rahman syndrome. We suggest that 2p23 microdeletion including DNMT3A may cause similar symptoms in patients with DNMT3A mutations and should be considered in patients with overgrowth. (C) 2016 Wiley Periodicals, Inc.

引用

页码：1339 / 1342

页数：4

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