Duplication AKT3 as a Cause of Macrocephaly in Duplication 1q43q44
Duplication AKT3 as a Cause of Macrocephaly in Duplication 1q43q44
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DOI：
10.1002/ajmg.a.35999
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发表时间：
2013-08-01
影响因子：
2
通讯作者：
Nowaczyk, Malgorzata J. M.
中科院分区：
文献类型：
--
作者：
Wang, David;Zeesman, Susan;Nowaczyk, Malgorzata J. M.
据报道，巨脑畸形和半巨脑畸形个体中存在 AKT3 的体细胞和种系重复以及该基因的激活突变。我们报告了一名患有大头畸形的患者，其 1q43q44 上有 3?Mb 的重复，其中包括 AKT3。通过阵列比较基因组杂交检测到这种重复。患者出现粗大运动和言语中度发育迟缓。她还患有巨头畸形、额叶隆起、距离过远、鼻梁宽、鼻翼小、人中短、上唇突出、耳朵位置低且突出。 3μMb的重复区域包含15个基因，包括AKT3。对 1q43q44 重复儿童巨脑畸形的观察提供了 AKT3 剂量不平衡与大脑生长障碍有关的进一步证据。 (c) 2013 年 Wiley 期刊公司。
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.