A novel de novo germline mutation Glu40Lys inAKT3causes megalencephaly with growth hormone deficiency-Reference-Cited by-同舟云学术

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A novel de novo germline mutation Glu40Lys inAKT3causes megalencephaly with growth hormone deficiency

Published:2017-02-12 Issue:4 Volume:173 Page:1071-1076
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Takagi Masaki¹,Dobashi Kazushige²,Nagahara Keiko²,Kato Mitsuhiro²,Nishimura Gen³,Fukuzawa Ryuji⁴,Narumi Satoshi¹⁵,Hasegawa Tomonobu¹

Affiliation:

1. Department of Pediatrics; Keio University School of Medicine; Tokyo Japan

2. Department of Pediatrics; Showa University School of Medicine; Tokyo Japan

3. Department of Radiology; Tokyo Metropolitan Children's Medical Center; Tokyo Japan

4. Department of Pathology and Laboratory Medicine; Tokyo Metropolitan Children's Medical Center; Tokyo Japan

5. Department of Molecular Endocrinology; National Research Institute for Child Health and Development; Tokyo Japan

Funder

Japan Society for the Promotion of Science

Yamaguchi Endocrine Research Foundation

Takeda Science Foundation

Foundation for Growth Science

The Japanese Society for Pediatric Endocrinology (Future Development Grant supported by Novo Nordisk Pharma Ltd)

Ministry of Health, Labour and Welfare, Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Phenotypes of AKT3 deletion: A case report and literature review;Gai;Am J Med Genet Part A,2015

2. An activating mutation of AKT2 and human hypoglycemia;Hussain;Science,2011

3. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia;Jansen;Brain,2015

4. De novo somaticmutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly;Lee;Nat Genet,2012

5. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis;Mirzaa;Am J Med Genet Part A,2012

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report;American Journal of Medical Genetics Part A;2024-03-08

2. The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development;Genes & Diseases;2023-07

3. Bilateral Sensorineural Hearing Loss in AKT3 Mutation: A Case Report and Brief Review of the Literature;Annals of Indian Academy of Neurology;2023

4. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings;Experimental and Molecular Pathology;2020-08

5. Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA;American Journal of Medical Genetics Part A;2019-11-15

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