众筹努力确定了一名患有眼球震颤、小头畸形、肌张力障碍和髓鞘形成低下患者的致病突变。 - Suppr

Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.

作者信息

Isakov Ofer, Lev Dorit, Blumkin Lubov, Celniker Gershon, Leshinsky-Silver Esther, Shomron Noam

机构信息

Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.

Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon 58100, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel.

出版信息

J Genet Genomics. 2015 Feb 20;42(2):79-81. doi: 10.1016/j.jgg.2014.12.004. Epub 2015 Jan 10.

DOI:10.1016/j.jgg.2014.12.004

PMID:25697102

Abstract

摘要

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Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.众筹努力确定了一名患有眼球震颤、小头畸形、肌张力障碍和髓鞘形成低下患者的致病突变。

J Genet Genomics. 2015 Feb 20;42(2):79-81. doi: 10.1016/j.jgg.2014.12.004. Epub 2015 Jan 10.

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.患有进行性小头畸形和低髓鞘性脑白质营养不良的患者中，吡咯啉-5-羧酸还原酶2（PYCR2）的纯合变异体

Am J Med Genet A. 2017 Feb;173(2):460-470. doi: 10.1002/ajmg.a.38049. Epub 2016 Nov 11.

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.严重神经变性、进行性脑容量减少以及与组织蛋白酶B基因纯合移码突变相关的弥漫性髓鞘形成不良。

Eur J Hum Genet. 2017 Jun;25(6):775-778. doi: 10.1038/ejhg.2017.39. Epub 2017 Apr 5.

Teaching NeuroImages: Hypomyelinating leukodystrophy with generalized dystonia.

Neurology. 2020 Jan 21;94(3):e335-e336. doi: 10.1212/WNL.0000000000008827.

Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.通过全外显子组测序在一个患有原发性小头畸形的苏丹家庭中发现的WDR62基因新剪接位点突变。

Congenit Anom (Kyoto). 2016 May;56(3):135-7. doi: 10.1111/cga.12144.

TUBB4A de novo mutations cause isolated hypomyelination.TUBB4A 新生突变导致孤立性少突胶质细胞发育不良。

Neurology. 2014 Sep 2;83(10):898-902. doi: 10.1212/WNL.0000000000000754. Epub 2014 Aug 1.

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.TUBB4A突变会导致特定的神经元和少突胶质细胞缺陷，这些缺陷与临床上明显不同的表型密切匹配。

Hum Mol Genet. 2017 Nov 15;26(22):4506-4518. doi: 10.1093/hmg/ddx338.

Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.临床外显子组测序在一名患有静止性低髓鞘形成性脑白质营养不良的儿童中鉴定出一种新的TUBB4A突变。

Pediatr Neurol. 2014 Jun;50(6):608-11. doi: 10.1016/j.pediatrneurol.2014.01.051. Epub 2014 Feb 10.

[Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case].[6型低髓鞘性脑白质营养不良。一例新病例检测中的临床及神经影像学关键特征]

Rev Neurol. 2018 Nov 1;67(9):339-342.

Autosomal dominant leukodystrophy and childhood ataxia with central nervous system hypomyelination syndrome.常染色体显性遗传性脑白质营养不良症与伴有中枢神经系统髓鞘形成不足综合征的儿童共济失调症。

Ann Neurol. 2006 Oct;60(4):485; author reply 485-6. doi: 10.1002/ana.20930.

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Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.理解致病微管蛋白突变的分子机制和预测表型效应。

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An overview of Fintech applications to solve the puzzle of health care funding: state-of-the-art in medical crowdfunding.金融科技应用于解决医疗保健资金难题的概述：医疗众筹的最新进展。

Financ Innov. 2022;8(1):84. doi: 10.1186/s40854-022-00388-9. Epub 2022 Sep 19.

In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.通过 TUBB4A 相关疾病中的正常模式变异分析进行计算机表型预测。

Sci Rep. 2022 Jan 7;12(1):58. doi: 10.1038/s41598-021-04337-x.

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.中国的髓鞘形成不良性疾病：119例患者的临床及遗传异质性

PLoS One. 2018 Feb 16;13(2):e0188869. doi: 10.1371/journal.pone.0188869. eCollection 2018.

Hum Mol Genet. 2017 Nov 15;26(22):4506-4518. doi: 10.1093/hmg/ddx338.

A novel mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.在一名青春期后发病的低髓鞘性脑白质营养不良患者中鉴定出一种新的G96R突变。

Hum Genome Var. 2017 Aug 3;4:17035. doi: 10.1038/hgv.2017.35. eCollection 2017.

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Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.

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