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Bilateral Sensorineural Hearing Loss in AKT3 Mutation: A Case Report and Brief Review of the Literature.

作者信息

Günay Çağatay, Kurul Semra H, Yiş Uluç

机构信息

Department of Pediatric Neurology, Dokuz Eylul University Faculty of Medicine, İzmir, Turkey.

出版信息

Ann Indian Acad Neurol. 2023 May-Jun;26(3):293-296. doi: 10.4103/aian.aian_92_23. Epub 2023 Apr 24.

DOI:10.4103/aian.aian_92_23
PMID:37538424
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10394454/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1930/10394454/848a44131ec2/AIAN-26-293-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1930/10394454/848a44131ec2/AIAN-26-293-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1930/10394454/848a44131ec2/AIAN-26-293-g001.jpg

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Megalencephaly Polymicrogyria Polydactyly Hydrocephalus (MPPH): A Case Report and Review of Literature.巨脑回-多小脑回-多指（趾）-脑积水综合征（MPPH）：一例报告及文献复习
Cureus. 2021 Jul 3;13(7):e16132. doi: 10.7759/cureus.16132. eCollection 2021 Jul.
2
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.与 PI3K-AKT-MTOR 通路核心成分突变相关的巨脑畸形综合征：PIK3CA、PIK3R2、AKT3 和 MTOR。
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):582-590. doi: 10.1002/ajmg.c.31736. Epub 2019 Aug 23.
3
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
AKT3基因的突变与多种发育障碍相关，包括极端巨头畸形。
Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203.
4
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.AKT3基因一种新的从头发生的种系突变Glu40Lys导致巨头畸形伴生长激素缺乏。
Am J Med Genet A. 2017 Apr;173(4):1071-1076. doi: 10.1002/ajmg.a.38099. Epub 2017 Feb 12.
5
The PI3K/AKT/mTOR interactive pathway.PI3K/AKT/mTOR 交互途径。
Mol Biosyst. 2015 Jul;11(7):1946-54. doi: 10.1039/c5mb00101c.
6
All Akt isoforms (Akt1, Akt2, Akt3) are involved in normal hearing, but only Akt2 and Akt3 are involved in auditory hair cell survival in the mammalian inner ear.所有Akt亚型（Akt1、Akt2、Akt3）均参与正常听力过程，但在哺乳动物内耳中，只有Akt2和Akt3参与听觉毛细胞的存活。
PLoS One. 2015 Mar 26;10(3):e0121599. doi: 10.1371/journal.pone.0121599. eCollection 2015.
7
NF-kappaB-dependent apoptotic hair cell death in the auditory system.听觉系统中核因子κB依赖性的凋亡性毛细胞死亡
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8
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Evidence for an Akt-kinase/NO/cGMP pathway in the cochlea of guinea pigs.豚鼠耳蜗中Akt激酶/一氧化氮/环磷酸鸟苷途径的证据。
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NF-kappaB is required for survival of immature auditory hair cells in vitro.核因子κB是体外未成熟听觉毛细胞存活所必需的。
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