Duplication AKT3 as a Cause of Macrocephaly in Duplication 1q43q44

被引：35
作者：
Wang, David [1 ]
Zeesman, Susan [2 ]
Tarnopolsky, Mark A. [2 ]
Nowaczyk, Malgorzata J. M. [2 ,3 ]
机构：
[1] Univ Toronto, Fac Med, Toronto, ON, Canada
[2] McMaster Univ, Dept Pediat, Hamilton, ON L8S 4J9, Canada
[3] McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON L8S 4J9, Canada
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161卷 / 08期
关键词：
duplication; 1q43q44; macrocephaly; AK; 3; intellectual disability; TRISOMY; DELINEATION; HYBRIDIZATION; 1Q;
D O I：
10.1002/ajmg.a.35999
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Somatic and germline duplications of AKT3 and activating mutations of this gene have been reported in individuals with megalencephaly and hemimegalencephaly. We report on a patient with macrocephaly and a 3?Mb duplication on 1q43q44 that includes AKT3. This duplication was detected by array comparative genomic hybridization. The patient presented with moderate developmental delays in gross motor movements and speech. She also had macrocephaly, frontal bossing, hypertelorism, wide nasal bridge, small alae nares, short philtrum, prominent upper lip, and low-set, protruding ears. The 3?Mb duplicated region contained 15 genes including AKT3. The observation of megalencephaly in a child with 1q43q44 duplication provides further evidence of involvement of AKT3 dosage imbalances in brain growth disturbance. (c) 2013 Wiley Periodicals, Inc.
引用
收藏
页码：2016 / 2019
页数：4
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