使用全外显子组测序检测额颞叶痴呆致病性MAPT基因突变的临床特征、萎缩和遗传模式:来自印度的单中心首次报告。

IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY
Subasree Ramakrishnan, Faheem Arshad, B S Keerthana, Susan Bosco, Arun Gokul Pon, V H Ganaraja, Deekshitha Madhusudhan, R Mahima, Gautham Arunachal, Karthick Kulanthaivelu, Suvarna Alladi
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引用次数: 0

摘要

背景/目的:额颞叶痴呆(FTD)是早发性退行性痴呆的常见病因之一,是一种临床和病理异质性的神经退行性疾病。在全球范围内,微管相关蛋白Tau (MAPT)、前颗粒蛋白(GRN)和9号染色体开放阅读框72(C9orf72)是常见的FTD基因突变。然而,在印度还没有报道,到目前为止,只有一种前颗粒蛋白(PGRN)突变被报道。本研究旨在首次使用全外显子组测序(WES)描述来自印度额颞叶痴呆队列的7例FTD患者携带致病性MAPT突变的临床特征和放射学模式。方法:从南印度一所教学大学医院招募符合额颞叶痴呆标准的痴呆患者。所有患者均接受了详细的临床评估、神经影像学和全外显子组测序(WES)的遗传分析。结果:86例行WES的FTD患者中,7例有MAPT突变。值得注意的是,其中两个是新的变体。结论:在印度,WES首次报道了FTD的致病性MAPT,而且主要来自单一中心。确定致病的MAPT基因对于规划突变特异性临床试验和理解FTD遗传的伦理和文化差异非常重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India.

Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India.

Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India.

Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India.

Background/objectives: Frontotemporal Dementia (FTD) is one of the common causes of early-onset degenerative dementia and is a clinically and pathologically heterogeneous group of neurodegenerative disorders. Globally, Microtubule Associated Protein Tau (MAPT), progranulin (GRN), and Chromosome 9 open reading frame 72(C9orf72) are the common FTD genetic mutations. However, they have not been reported from India, and only one progranulin (PGRN) mutation has been reported so far. This study aims to describe the clinical features and radiological patterns of seven patients of FTD harbouring pathogenic MAPT mutations from an Indian cohort of Frontotemporal dementia, using whole-exome sequencing (WES) for the first time.

Methods: Subjects with dementia fulfilling the criteria for frontotemporal dementia were recruited from a teaching university hospital in South India. All of them underwent detailed clinical evaluation, neuroimaging, and genetic analysis by Whole Exome Sequencing (WES).

Results: Among 86 patients with FTD who underwent WES, seven had MAPT mutations. Notably, two are novel variants.

Conclusion: In the Indian context, pathogenic MAPT in FTD is being reported for the first time and notably from a single center by WES. Identifying pathogenic MAPT genes is important in planning mutation-specific clinical trials and understanding ethical and cultural differences in genetic FTD inheritance.

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来源期刊
BMC Neurology
BMC Neurology 医学-临床神经学
CiteScore
4.20
自引率
0.00%
发文量
428
审稿时长
3-8 weeks
期刊介绍: BMC Neurology is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of neurological disorders, as well as related molecular genetics, pathophysiology, and epidemiology.
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