A novel de novo germline mutation Glu40Lys in AKT3 AKT3 causes megalencephaly with growth hormone deficiency

Takagi Masaki; Dobashi Kazushige; Nagahara Keiko; Kato Mitsuhiro; Nishimura Gen; Fukuzawa Ryuji; Narumi Satoshi; Hasegawa Tomonobu

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A novel de novo germline mutation Glu40Lys in AKT3 AKT3 causes megalencephaly with growth hormone deficiency

机译：AKT3 AKT3中的一种新型Novo种系突变Glu40lys在患有生长激素缺乏的情况下引起mangalencephaly

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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 . ? 2017 Wiley Periodicals, Inc.

机译：据报道，v-akt鼠胸腺瘤病毒癌癌病毒癌癌病毒癌症（akt3）中的种系或体细胞功能突变导致综合征mugalencephaly。我们描述了一种新型种系突变，P.Glu40lys，在AKT3中。表型，患者患有Mugalencephaly，具有低呼吸道，表观结缔组织松弛和生长激素（GH）缺乏。为了我们的知识，这是患有GH缺乏的患者的第一个患者，涉及AKT3中的种系De Novo突变。还 2017年Wiley期刊，Inc。

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来源
《American journal of medical genetics, Part A》 |2017年第4期|共6页
作者
Takagi Masaki; Dobashi Kazushige; Nagahara Keiko; Kato Mitsuhiro; Nishimura Gen; Fukuzawa Ryuji; Narumi Satoshi; Hasegawa Tomonobu;
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作者单位

Department of PediatricsKeio University School of MedicineTokyo Japan;

Department of PediatricsShowa University School of MedicineTokyo Japan;

Department of PediatricsShowa University School of MedicineTokyo Japan;

Department of PediatricsShowa University School of MedicineTokyo Japan;

Department of RadiologyTokyo Metropolitan Children's Medical CenterTokyo Japan;

Department of Pathology and Laboratory MedicineTokyo Metropolitan Children's Medical CenterTokyo;

Department of PediatricsKeio University School of MedicineTokyo Japan;

Department of PediatricsKeio University School of MedicineTokyo Japan;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
megalencephaly; AKT3; growth hormone deficiency;

机译：mugaliventphaly;akt3;生长激素缺乏;

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专利

1. A novel de novo germline mutation Glu40Lys in AKT3 AKT3 causes megalencephaly with growth hormone deficiency [J] . Takagi Masaki, Dobashi Kazushige, Nagahara Keiko, American journal of medical genetics, Part A . 2017,第4期

机译：AKT3 AKT3中的一种新型Novo种系突变Glu40lys在患有生长激素缺乏的情况下引起mangalencephaly
2. Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3 [J] . Harada Atsuko, Miya Fuyuki, Utsunomiya Hidetsuna, Child's nervous system: ChNS : official journal of the International Society for Pediatric Neurosurgery . 2015,第3期

机译：与AKT3的从头突变相关的巨脑毛细血管畸形突然死亡
3. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly [J] . DianaAlcantara, Andrew E.Timms, KarenGripp, Brain: A journal of neurology . 2017,第10期

机译：AKT3的突变与包括极端mugalency患病的广泛发育障碍相关联
4. COMPARISON OF GROWTH HORMONE SECRETION PATTERNS IN CHILDREN WITH AND WITHOUT HORMONAL DEFICIENCY [C] . R.C. Hermida, L. Garcfa, D.E. Ayala 1995 IEEE engineering in medicine and biology 17th annual conference and 21st Canadian medical and biological engineering conference . 1997

机译：有和没有荷尔蒙缺乏症的儿童生长激素分泌型态的比较
5. MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome [D] . Kato Kohji, 加藤耕治 2019

机译：患有新型巨脑综合征的患者的MYCN de novo功能获得性突变
6. De novo germline and postzygotic mutations in AKT3 PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes [O] . Jean-Baptiste Rivière, Ghayda M. Mirzaa, Brian J. O’Roak, -1

机译：在aKT3pIK3R2和pIK3Ca从头生殖和postzygotic突变引起的相关症状巨脑的频谱
7. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly [O] . Alcantara, Diana, Timms, Andrew E, Gripp, Karen, 2017

机译：aKT3的突变与广泛的发育障碍有关，包括极端巨脑病

A novel de novo germline mutation Glu40Lys in AKT3 AKT3 causes megalencephaly with growth hormone deficiency

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