The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variants are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variants

Rutten Julie W.; Van Eijsden Bastian J.; Duering Marco; Jouvent Eric; Opherk Christian; Pantoni Leonardo; Federico Antonio; Dichgans Martin; Markus Hugh S.; Chabriat Hugues; Oberstein Saskia A. J. Lesnik

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The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variants are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variants

机译：Notch3致病变异位置对Cadasil疾病严重程度的影响：Notch3 EGFR 1-6致病变体与与EGFR 7-34致病变体相比更严重的表型和更低的存活相关

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Purpose: CADASIL is a small-vessel disease caused by a cysteine-altering pathogenic variant in one of the 34 epidermal growth factor-like repeat (EGFr) domains of the NOTCH3 protein. We recently found that pathogenic variant in EGFr domains 7-34 have an unexpectedly high frequency in the general population (1:300). We hypothesized that EGFr 7-34 pathogenic variant more frequently cause a much milder phenotype, thereby explaining an important part of CADASIL disease variability.

机译：目的：Cadasil是一种由半胱氨酸改变的致病变异引起的小血管疾病，其中34个表皮生长因子样重复（EGFR）域之一的甲基蛋白的载体域之一。我们最近发现EGFR结构域7-34中的致病变异在一般人群中具有意外的高频率（1：300）。我们假设EGFR 7-34致病变体更频繁地引起更温和的表型，从而解释了Cadasil疾病变异性的重要组成部分。

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来源
《Genetics in medicine》 |2019年第3期|共7页
作者
Rutten Julie W.; Van Eijsden Bastian J.; Duering Marco; Jouvent Eric; Opherk Christian; Pantoni Leonardo; Federico Antonio; Dichgans Martin; Markus Hugh S.; Chabriat Hugues; Oberstein Saskia A. J. Lesnik;
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作者单位

Leiden Univ Med Ctr Dept Clin Genet CADASIL Res Grp Leiden Netherlands;

Leiden Univ Med Ctr Dept Clin Genet CADASIL Res Grp Leiden Netherlands;

Univ Hosp LMU Inst Stroke &

Dementia Res Munich Germany;

Lariboisiere Hosp AP HP Dept Neurol Paris France;

SLK Kliniken Heilbronn Dept Neurol Heilbronn Germany;

Univ Milan L Sacco Dept Biomed &

Clin Sci Milan Italy;

Univ Siena Sch Med Dept Med Surg &

Neurosci Siena Italy;

Univ Hosp LMU Inst Stroke &

Dementia Res Munich Germany;

Univ Cambridge Dept Clin Neurosci Stroke Res Grp Cambridge England;

Lariboisiere Hosp AP HP Dept Neurol Paris France;

Leiden Univ Med Ctr Dept Clin Genet CADASIL Res Grp Leiden Netherlands;

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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
CADASIL; Genotype-phenotype correlation; NOTCH3; Small-vessel disease;

机译：Cadasil;基因型 - 表型相关;Notch3;小血管疾病;

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专利

1. The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variants are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variants [J] . Rutten Julie W., Van Eijsden Bastian J., Duering Marco, Genetics in medicine . 2019,第3期

机译：Notch3致病变异位置对Cadasil疾病严重程度的影响：Notch3 EGFR 1-6致病变体与与EGFR 7-34致病变体相比更严重的表型和更低的存活相关
2. A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not? [J] . Schubert V., Bender B., Kinzel M., Journal of neurology . 2018,第6期

机译：Cadasil Gene Notch3中的一种新型帧素曲折变体：病原体或不是致病症？
3. Novel heterozygous NOTCH3 pathogenic variant found in two Chinese patients with CADASIL [J] . Shufeng Li, Yifan Chen, Haitao Shan, Journal of clinical neuroscience: official journal of the Neurosurgical Society of Australasia . 2017,第期

机译：在两种中药患者中发现新型杂合子Notch3致病变体
4. Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases [C] . Jorge Oliveira, Rute Pereira, Rosario Santos, International Conference on Bioinformatics Models, Methods and Algorithms . 2017

机译：纯合子映射使用全exome测序：一种有价值的遗传疾病致病变异鉴定的方法
5. Medical Decision Making among Individuals with a Variant of Uncertain Significance in a Hereditary Cancer Gene and those with a CHEK2 Pathogenic Variant [D] . Almanza, Deanna J. 2019

机译：在遗传癌基因中具有不确定意义的个体的医学决策，以及Chek2致病变异的人
6. NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients [O] . Yacen Hu, Qiying Sun, Yafang Zhou, 2021

机译：中国Cadasil患者的Notch3变体和基因型 - 表型特征
7. Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant [O] . Julie W. Rutten, Bastian J. Van Eijsden, Marco Duering, 2018

机译：校正：Notch3致病变异位置对Cadasil疾病严重程度的影响：Notch3 EGFR 1-6致病变体与更严重的表型和降低存活率与EGFR 7-34病原变体相比有关

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variants are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variants

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