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Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language (NEDMIAL) Due to DHX30 Mutations: First Indian Report of Two Cases.

作者信息

Gunasekaran Pradeep Kumar, Sharma Yashu, Bhatia Vikas, Saini Arushi Gahlot

机构信息

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

Ann Indian Acad Neurol. 2024 Jul 1;27(4):465-466. doi: 10.4103/aian.aian_253_24. Epub 2024 Aug 16.

DOI:10.4103/aian.aian_253_24
PMID:39150459
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11418768/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81e8/11418768/c5958b228bdd/AIAN-27-465-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81e8/11418768/c5958b228bdd/AIAN-27-465-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81e8/11418768/c5958b228bdd/AIAN-27-465-g001.jpg

相似文献

1
Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language (NEDMIAL) Due to DHX30 Mutations: First Indian Report of Two Cases.因DHX30基因突变导致的伴有严重运动障碍和语言缺失的神经发育障碍（NEDMIAL）：印度首例两例报告
Ann Indian Acad Neurol. 2024 Jul 1;27(4):465-466. doi: 10.4103/aian.aian_253_24. Epub 2024 Aug 16.
2
A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL).一名患有神经发育障碍、严重运动障碍和语言缺失（NEDMIAL）患者中DHX30基因的一种新型新发突变
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-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review.伴有严重运动障碍和语言缺失的相关神经发育障碍：两兄弟中的首例韩国病例及文献复习
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A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30.一名日本成年人和两名女孩因DHX30基因的新生错义变异导致NEDMIAL。
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Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.DHX30 相关神经发育障碍的基因型-表型相关性及新的分子见解。
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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.DHX30基因的新生错义突变损害整体翻译并导致一种神经发育障碍。
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本文引用的文献

1
-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review.伴有严重运动障碍和语言缺失的相关神经发育障碍：两兄弟中的首例韩国病例及文献复习
Ann Clin Lab Sci. 2023 Mar;53(2):325-333.
2
A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL).一名患有神经发育障碍、严重运动障碍和语言缺失（NEDMIAL）患者中DHX30基因的一种新型新发突变
Cureus. 2023 Jan 12;15(1):e33682. doi: 10.7759/cureus.33682. eCollection 2023 Jan.
3
De novo pathogenic DHX30 variants in two cases.
两例患者中发现的新发致病性DHX30变异体。
Clin Genet. 2021 Sep;100(3):350-351. doi: 10.1111/cge.14013. Epub 2021 Jun 28.
4
A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30.一名日本成年人和两名女孩因DHX30基因的新生错义变异导致NEDMIAL。
Hum Genome Var. 2021 Jun 18;8(1):24. doi: 10.1038/s41439-021-00155-9.
5
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.DHX30 相关神经发育障碍的基因型-表型相关性及新的分子见解。
Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3.
6
A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder.一篇关于DHX30相关神经发育障碍中生殖腺嵌合体的报告。
Clin Dysmorphol. 2020 Jul;29(3):161-164. doi: 10.1097/MCD.0000000000000316.
7
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.DHX30基因的新生错义突变损害整体翻译并导致一种神经发育障碍。
Am J Hum Genet. 2017 Nov 2;101(5):716-724. doi: 10.1016/j.ajhg.2017.09.014.
8
The novel helicase helG (DHX30) is expressed during gastrulation in mice and has a structure similar to a human DExH box helicase.新型解旋酶helG（DHX30）在小鼠原肠胚形成过程中表达，其结构与人类DExH盒解旋酶相似。
Stem Cells Dev. 2015 Feb 1;24(3):372-83. doi: 10.1089/scd.2014.0077. Epub 2014 Oct 7.
9
DEXH-Box protein DHX30 is required for optimal function of the zinc-finger antiviral protein.DEXH-Box 蛋白 DHX30 是锌指抗病毒蛋白发挥最佳功能所必需的。
Protein Cell. 2010 Oct;1(10):956-64. doi: 10.1007/s13238-010-0117-8. Epub 2010 Nov 9.
10
The packaging of human immunodeficiency virus type 1 RNA is restricted by overexpression of an RNA helicase DHX30.1型人类免疫缺陷病毒RNA的包装受到RNA解旋酶DHX30过表达的限制。
Virology. 2008 Mar 1;372(1):97-106. doi: 10.1016/j.virol.2007.10.027. Epub 2007 Nov 26.