A Novel De Novo Germline Mutation Glu40Lys in AKT3 Causes Megalencephaly with Growth Hormone Deficiency
A Novel De Novo Germline Mutation Glu40Lys in AKT3 Causes Megalencephaly with Growth Hormone Deficiency
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DOI：
10.1002/ajmg.a.38099
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发表时间：
2017-04-01
影响因子：
2
通讯作者：
Hasegawa, Tomonobu
中科院分区：
文献类型：
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作者：
Takagi, Masaki;Dobashi, Kazushige;Hasegawa, Tomonobu
v-akt小鼠胸腺瘤病毒癌基因同源物3（AKT 3）的生殖系或体细胞功能获得性突变已被报道可引起综合征性巨脑畸形。我们描述了一种新的种系突变，p.Glu40Lys，在AKT 3。表型上，患者表现为巨脑畸形伴张力减退、明显结缔组织松弛和生长激素（GH）缺乏。据我们所知，这是第一例患有巨脑畸形伴GH缺乏症的患者，在AKT 3中携带生殖系从头突变。(C)2017 Wiley Periodicals，Inc.
Germline or somatic gain-of-function mutations in the v-akt murine thymoma viral oncogene homolog 3 (AKT3) have been reported to cause syndromic megalencephaly. We describe a novel germline mutation, p.Glu40Lys, in AKT3. Phenotypically, the patient presented with megalencephaly with hypotonia, apparent connective tissue laxity, and growth hormone (GH) deficiency. To our knowledge, this is the first instance of a patient with megalencephaly with GH deficiency, harboring a germline de novo mutation in AKT3. (C) 2017 Wiley Periodicals, Inc.