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Enhancing a Coastal Territorial Vulnerability Index: Anticipating the Impacts of Coastal Flooding with a Local Scale Approach 增强沿海地区脆弱性指数:用局部尺度方法预测沿海洪水的影响
IF 2.5 4区 环境科学与生态学 Q4 ENVIRONMENTAL SCIENCES Pub Date : 2022-08-16 DOI: 10.1080/08920753.2022.2107858
J. L. Barros, A. Tavares, P. Santos, P. Freire
Abstract The coastal zone of mainland Portugal is characterized by its morpho-sedimentary diversity such as estuaries, lagoons, barrier islands, beaches, dunes and cliffs. The high population density and the multiplicity of land use, occupation and activities, makes it an area of great national strategic value. This transforms the coastal zone into a multi-hazard zone, where the occurrences related to coastal flooding and overtopping stand out. In the present work, a multidimensional methodology called Coastal Territorial Vulnerability Index (CTVI) was developed and applied in three selected areas with a historical record of coastal impacts, to analyze, evaluate and interpret the local vulnerability. The methodology considers four components of coastal territorial vulnerability: morphology, land value, buildings and public areas characteristics. These four components are combined to calculate the CTVI. The results highlight the differences for the analyzed areas, allowing the differentiation of natural and artificial areas. In the natural areas a moderate CTVI predominates, while in the latter, a high and very high CTVI stands out. The results contribute to the development of a comprehensive coastal flood risk assessment and forecasting the impacts.
葡萄牙大陆海岸带以河口、泻湖、堰洲岛、海滩、沙丘和悬崖等形态-沉积多样性为特征。高人口密度和土地利用、占用和活动的多样性,使其成为具有重大国家战略价值的地区。这就把沿海地区变成了一个多灾害地区,在那里,与沿海洪水和漫顶有关的事件尤为突出。在本研究中,我们开发了一种名为沿海领土脆弱性指数(CTVI)的多维方法,并在三个具有沿海影响历史记录的地区进行了应用,以分析、评估和解释当地的脆弱性。该方法考虑了沿海领土脆弱性的四个组成部分:形态、土地价值、建筑物和公共区域特征。这四个分量结合起来计算CTVI。结果突出了分析区域的差异,允许区分自然和人工区域。自然区以中等CTVI为主,而自然区则以较高和非常高的CTVI为主。研究结果有助于建立综合的沿海洪水风险评估和影响预测。
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引用次数: 3
Bivalve Shellfish Aquaculture in the National Estuarine Research Reserves: Assessing Current Activities, Relevant Policy, and Engagement Approaches 国家河口研究保护区的双壳贝类水产养殖:评估当前活动,相关政策和参与方法
IF 2.5 4区 环境科学与生态学 Q4 ENVIRONMENTAL SCIENCES Pub Date : 2022-07-19 DOI: 10.1080/08920753.2022.2082857
D. Bell, S. Bricker, Christopher Kinkade, Elizabeth S. Darrow
Abstract Expansion of shellfish aquaculture in the U.S. is currently being promoted for its demonstrated potential as an environmentally friendly and sustainable food production system. The National Estuarine Research Reserve System (NERRS), through its network of protected estuarine sites and research, education, and interpretation mandates, may provide an effective means for enhancing public awareness and management of shellfish aquaculture within the nation’s estuarine areas. However, the NERRS’s role regarding the presence of aquaculture within Reserve boundaries, for research or non-research purposes, is not broadly understood by NERRS stakeholders. The goals of this study were to broadly review and highlight the current activities, regulatory framework, and engagement approaches to aquaculture within the NERRS, and more specifically, to focus on the suitability and role(s) the NERRS may choose to seek or strengthen with respect to shellfish aquaculture. To accomplish this, a survey questionnaire was disseminated within the NERRS community. Twelve of the 29 Reserves within the NERRS held some type of aquaculture activity, while 17 Reserves believed their Reserve was suitable or potentially suitable for shellfish aquaculture. Reserve suitability was driven by a range of factors, including: water quality, NERRS regulations, character of Reserve land-managing entities, scope of protected areas, and preexisting or historical shellfish aquaculture and/or wild harvest activities. Overall, the Reserves’ approach to shellfish aquaculture was locally focused, but with patterns that reflected a regional influence. Additionally, Reserves displayed key roles as coordinating entities and a trusted source of science. Particularly with establishing commercial aquaculture, it is critical to couple the goals of an aquaculture activity with the net positive and negative impacts to a specific geographic area. We recommend that the NERRS would benefit from developing best management practices for approaching shellfish aquaculture within Reserve boundaries, and educating and engaging with shellfish aquaculture stakeholders. One approach might be to develop a decision-support model for approaching and allowing each use of aquaculture (research, restoration, conservation, recreation, and commercial), in collaboration with regulatory agencies and other stakeholders.
摘要目前,美国正在推动贝类养殖的扩张,因为它已被证明是一种环保和可持续的食品生产系统。国家河口研究保护区系统(NERS)通过其受保护的河口遗址网络以及研究、教育和解释授权,可以为提高公众对国家河口地区贝类养殖的认识和管理提供有效手段。然而,NERRS的利益相关者并不广泛理解NERRS在保护区边界内水产养殖的作用,无论是出于研究还是非研究目的。本研究的目的是广泛审查和强调国家渔业资源监管系统内当前的水产养殖活动、监管框架和参与方法,更具体地说,重点关注国家渔业资源管理系统在贝类水产养殖方面可能选择寻求或加强的适宜性和作用。为了做到这一点,在NERS社区内分发了一份调查问卷。NERRS内的29个保护区中有12个拥有某种类型的水产养殖活动,而17个保护区认为其保护区适合或可能适合贝类水产养殖。保护区的适宜性是由一系列因素驱动的,包括:水质、NERS法规、保护区土地管理实体的性质、保护区的范围,以及先前存在或历史上的贝类养殖和/或野生捕捞活动。总的来说,保护区的贝类养殖方法以当地为重点,但模式反映了地区影响。此外,保护区作为协调实体和可靠的科学来源发挥了关键作用。特别是在建立商业水产养殖的情况下,将水产养殖活动的目标与对特定地理区域的净积极和消极影响结合起来至关重要。我们建议,NERS将受益于制定最佳管理实践,以处理保护区边界内的贝类养殖,并教育和参与贝类养殖利益相关者。一种方法可能是与监管机构和其他利益相关者合作,开发一个决策支持模型,以接近并允许水产养殖的每一种用途(研究、恢复、保护、娱乐和商业)。
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引用次数: 0
Out of Sight and Out of Reach: Public Access Strategies Using a Mixed Method to Reconnect a Saudi Urban Mega-District with its Shoreline 视线之外和触手可及:使用混合方法重新连接沙特城市大区及其海岸线的公共访问策略
IF 2.5 4区 环境科学与生态学 Q4 ENVIRONMENTAL SCIENCES Pub Date : 2022-07-04 DOI: 10.1080/08920753.2022.2078175
Nawaf Alhajaj, C. Hendrigan
Abstract This study questions global best-practice policies regarding public access to the shorelines of rapidly-growing cities, based on a mega-urban district in Jeddah, Saudi Arabia, where residents are not yet provided with public open space, nor with physical or visual access to the qualitatively desirable shoreline. We applied a policy-led review of local legal frameworks and global best-practices of shoreline public access management, followed by several descriptive research strategies to develop four public access strategies that connect the district with its shoreline. The developed strategies can inform other cities with competing population growth pressures, in providing the health benefits of equitable public shoreline access. The strategies raise new management issues such as shoreline public access locations, capital and operational financing, and ecological consequences.
摘要本研究以沙特阿拉伯吉达的一个特大城市区为基础,对公众进入快速发展城市海岸线的全球最佳实践政策提出了质疑,该地区的居民尚未获得公共开放空间,也没有物理或视觉途径进入质量理想的海岸线。我们对当地法律框架和海岸线公共通道管理的全球最佳实践进行了政策主导的审查,随后制定了几项描述性研究策略,以制定四项公共通道策略,将该地区与其海岸线连接起来。制定的战略可以为其他面临竞争性人口增长压力的城市提供信息,从而提供公平的公共海岸线通道带来的健康益处。这些战略提出了新的管理问题,如海岸线公共通道位置、资本和运营融资以及生态后果。
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引用次数: 0
Polycentric Governance, Coordination and Capacity: The Case of Sargassum Influxes in the Caribbean 多中心治理、协调和能力:以加勒比马尾藻流入为例
IF 2.5 4区 环境科学与生态学 Q4 ENVIRONMENTAL SCIENCES Pub Date : 2022-06-10 DOI: 10.1080/08920753.2022.2078172
Sien van der Plank, Shelly-Ann Cox, J. Cumberbatch, R. Mahon, Bethia Thomas, E. Tompkins, J. Corbett
Abstract The merits of polycentric climate governance have attracted considerable discussion. On the one hand, polycentric governance offers an alternative to top-down state-centric forms that have so far proven elusive. On the other, highly networked systems increase coordination challenges. Less attention has been paid to the varying capacities required to achieve coordination. In this article we explore the coordination of polycentric governance via a case study of sargassum influx management in the Caribbean. Since 2011, large quantities of sargassum seaweed have been washing up on Caribbean beaches with adverse socio-economic impacts. Our analysis of sargassum management policies reveals that a nascent polycentric system has generated significant cooperation in policy development and application across the region. However, there remain national capacity deficits to engage in this form of governance and to implement agreed actions. We conclude that advocates of a polycentric climate governance regime need to consider how capacity shapes participation, to the advantage of the largest and strongest. Polycentric governance can be useful for solving disparate cross-border environmental problems, but it also imposes a cost on the smallest that has thus far been unacknowledged and undertheorized.
多中心气候治理的优点引起了广泛的讨论。一方面,多中心治理为迄今为止难以捉摸的自上而下的以国家为中心的形式提供了另一种选择。另一方面,高度网络化的系统增加了协调的挑战。对实现协调所需的不同能力的注意较少。在本文中,我们通过对加勒比地区马尾藻流入管理的案例研究来探讨多中心治理的协调。自2011年以来,大量马尾藻被冲上加勒比海滩,对社会经济产生了不利影响。我们对马尾藻管理政策的分析表明,新兴的多中心系统在整个地区的政策制定和应用方面产生了重要的合作。然而,在参与这种形式的治理和执行商定的行动方面,国家能力仍然存在缺陷。我们的结论是,多中心气候治理机制的倡导者需要考虑能力如何影响参与,以最大和最强的优势。多中心治理对于解决不同的跨境环境问题可能是有用的,但它也会对最小的成本施加影响,这一点迄今为止尚未得到承认和理论化。
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引用次数: 8
Economic Value of Salt Marshes under Uncertainty of Sea Level Rise: A Case Study of the Narragansett Bay 海平面上升不确定性下盐沼的经济价值——以纳拉甘西特湾为例
IF 2.5 4区 环境科学与生态学 Q4 ENVIRONMENTAL SCIENCES Pub Date : 2022-06-10 DOI: 10.1080/08920753.2022.2078174
Vivianne Mazzocco, Tahsin Hasan, Simona Trandafir, E. Uchida
Abstract Salt marshes are an integral part of coastal ecosystems that are changing rapidly with sea level rise (SLR). Because marshes provide important ecosystem services, such as carbon sequestration and shoreline protection, it is critical to understand how their economic benefit values are likely to be affected by SLR. Such change, however, depends on the capacity of marshes to adapt to flooding by migrating inland. This study provides the economic value of changes in carbon and non-carbon benefits using predicted changes in salt marsh coverage in Narragansett Bay, Rhode Island under three SLR scenarios and two marsh adaptation conditions. We apply regional carbon prices and a value function transfer approach to value other salt marsh service values. Results indicate an average annual value of $1,863/acre for carbon and $2,537/acre for non-carbon ecosystem services. This yields a mean discounted value of $592 million (M) (+14% compared to no change) over 90 years. We discuss alternative management strategies to enhance marshes’ capacity to migrate inland, which may accrue as much as $659 M.
摘要盐沼是海岸生态系统的一个组成部分,随着海平面上升,盐沼正在迅速变化。由于沼泽提供了重要的生态系统服务,如碳固存和海岸线保护,了解其经济效益价值可能如何受到SLR的影响至关重要。然而,这种变化取决于沼泽地向内陆迁移以适应洪水的能力。本研究利用三种SLR情景和两种沼泽适应条件下罗德岛州纳拉甘塞特湾盐沼覆盖率的预测变化,提供了碳和非碳效益变化的经济价值。我们应用区域碳价格和价值函数转移方法来评估其他盐沼服务价值。结果表明,碳的年平均价值为1863美元/英亩,非碳生态系统服务的年平均值为2537美元/英亩。这产生了90年内5.92亿美元的平均贴现价值(与不变相比增加了14%)。我们讨论了提高沼泽向内陆迁移能力的替代管理策略,这可能会带来高达6.59亿美元的收入。
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引用次数: 3
Assessing Sustainability Aspects of Mud Crab (Scylla sp.) Fishery and Its Link to Social-Ecological Traps in the Bangladesh Sundarbans 评估孟加拉国孙德尔本斯地区泥蟹渔业的可持续性及其与社会生态陷阱的联系
IF 2.5 4区 环境科学与生态学 Q4 ENVIRONMENTAL SCIENCES Pub Date : 2022-06-07 DOI: 10.1080/08920753.2022.2078176
Md. Ruyel Miah, M. Hossain, M. Islam
Abstract Small-scale fisheries are affected by both local and external pressures, despite the contribution to poverty alleviation, employment, and food and nutritional security. Diverse social and ecological pressures make small-scale fishing communities trapped in persistent cycles of a particular fisheries resource dependence. Consequently, the overall sustainability of that particular species, especially biological, economic and social aspects, becomes vulnerable. This study investigates the biological, economic, and social aspects of a commercially important fish species, i.e., mud crab (Scylla sp.) and explores its link to social-ecological traps. The findings show how the social-ecological traps are forming based on mud crab resource utilization, poverty, overcapitalization and seasonality of crab availability, coupled with weak institutions and governance. Apart from ongoing environmental risks (e.g., extreme climate events), negative feedback comes from poor enforcement of rules and regulations, illegal and destructive fishing, inadequate income, social conflicts, and declining stock. In response to crises, fishers are increasingly dependent on middlemen, leading to the unfair price of their products compared to the market. To escape from the social-ecological traps, strong local institutions, alternative income opportunities, compliance of fishing laws (e.g., gear selectivity, harvest, and trade prohibition of undersize crabs), strong collaboration between management authority and local stakeholders are important toward ensuring the sustainability of the mud crab fishery in the Bangladesh Sundarbans.
摘要小型渔业受到当地和外部压力的影响,尽管它们有助于减轻贫困、就业以及粮食和营养安全。多样化的社会和生态压力使小规模渔业社区陷入特定渔业资源依赖的持续循环中。因此,该特定物种的总体可持续性,特别是生物、经济和社会方面的可持续性变得脆弱。本研究调查了一种商业上重要的鱼类物种,即泥蟹(Scylla sp.)的生物学、经济和社会方面,并探讨了其与社会生态陷阱的联系。研究结果表明,基于泥蟹资源利用、贫困、过度资本化和螃蟹供应的季节性,再加上薄弱的制度和治理,社会生态陷阱是如何形成的。除了持续的环境风险(例如,极端气候事件)外,负面反馈还来自规则和条例执行不力、非法和破坏性捕鱼、收入不足、社会冲突和库存下降。为了应对危机,渔民越来越依赖中间商,导致他们的产品与市场相比价格不公平。为了摆脱社会生态陷阱,强大的地方机构、替代性收入机会、遵守捕鱼法(如渔具选择性、捕捞和小尺寸螃蟹贸易禁令)、管理当局和当地利益相关者之间的强有力合作对确保孟加拉国孙德尔本斯泥蟹渔业的可持续性至关重要。
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引用次数: 1
Examining Institutional Arrangements toward Coordinated Regional Ocean Governance and Blue Economy Policy Development in the Caribbean Community (CARICOM) 审查加勒比共同体(加共体)协调区域海洋治理和蓝色经济政策发展的体制安排
IF 2.5 4区 环境科学与生态学 Q4 ENVIRONMENTAL SCIENCES Pub Date : 2022-06-06 DOI: 10.1080/08920753.2022.2082835
Kahlil Hassanali
Abstract Members of the Caribbean Community (CARICOM) exhibit strong economic, social and cultural connection with and dependence on the marine and coastal environment. Efforts to encourage the sustainable use and protection of the ocean and its resources should therefore be an area of interest and competence for the regional group which seeks to engender cooperation in matters of economic and social development. This paper examines the regionally relevant institutional arrangements that frame and execute ocean development and governance within CARICOM. It finds that while some important sectors, such as fisheries and tourism, have specific organizations established geared toward regional coordination in management of those activities, others, including offshore oil and gas, marine scientific research, and port and shipping development, lack similar arrangements. Additionally, the CARICOM group lags in adopting a holistic, ecosystem approach to ocean management with siloed approaches dominating and few formal mechanisms for intersectoral coordination existing. This paper advocates for and proposes means toward increased integration at a regional level for the management and continued governance of the marine space, its associated resources and activities. It also seeks to encourage the participatory development of a regional blue economy policy framework and strategy which would outline, among other things, CARICOM’s ocean vision and development priorities.
摘要加勒比共同体(加共体)成员国与海洋和沿海环境有着密切的经济、社会和文化联系,并对其产生依赖。因此,鼓励可持续利用和保护海洋及其资源的努力应该是寻求在经济和社会发展问题上开展合作的区域集团感兴趣和主管的领域。本文件审查了在加共体范围内制定和执行海洋开发和治理的区域相关体制安排。报告发现,尽管渔业和旅游业等一些重要部门建立了专门的组织,旨在对这些活动进行区域协调管理,但其他部门,包括海上石油和天然气、海洋科学研究以及港口和航运发展,却缺乏类似的安排。此外,加共体集团在采用全面的生态系统方法进行海洋管理方面落后,各自为政,部门间协调的正式机制很少。本文主张并提出了在区域一级加强海洋空间及其相关资源和活动的管理和持续治理一体化的方法。它还寻求鼓励参与制定区域蓝色经济政策框架和战略,除其他外,该框架和战略将概述加共体的海洋愿景和发展优先事项。
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引用次数: 3
The State of Beach Litter Pollution during the COVID-19 Pandemic: A Case Study of the Israeli Coasts 2019冠状病毒病大流行期间的海滩垃圾污染状况:以以色列海岸为例
IF 2.5 4区 环境科学与生态学 Q4 ENVIRONMENTAL SCIENCES Pub Date : 2022-06-01 DOI: 10.1080/08920753.2022.2078177
Yael Segal, Y. Gertner, G. Sisma‐Ventura, Dror Zurel, B. Herut
Abstract This research examines the impact of the COVID-19 pandemic on marine litter pollution along the Israeli coast, which constitutes a terminal area in the Mediterranean Sea large-scale circulation. Surveys for litter were conducted on four beaches along the Israeli Mediterranean coast. Sampling was done pre-pandemic in June, September, and December of 2019; during the first year of the pandemic in March, June, September, and December of 2020; and during the second year of the pandemic in March 2021. The study revealed that during the first year of the pandemic, beach litter concentration was reduced by 47 ± 27% on all beaches. The decrease in beach litter continued during the second year on most beaches (34 ± 22% reduction) and was most observable for plastic products, which have a high potential to float and travel long distances. The decline in beach litter concentration in the Israeli beaches during the pandemic was statistically significant. The barcode analysis indicates the appearance of non-Israeli debris on the shores (22-81% pre-COVID-19 and 5-47% during-COVID-19), which supports the assumption that the reduction in marine litter pollution was affected by the decline in beach activity both locally and in other coastal neighboring countries. An additional effect of the pandemic was the appearance of single-use plastic masks and gloves in April 2020, influenced by the epidemic’s regulations and restrictions. Despite the decline in beach marine litter concentration during COVID-19, plastic pollution is a high concern in this heavily populated coastal region. Our data set provides an indication for the potential of local and regional regulations to reduce further beach litter pollution and a baseline for continuous monitoring of these processes. Highlights The impact of COVID-19 on beach litter pollution along Israel’s coast was studied Significant decline in beach litter concentration during the Covid-19 pandemic. Barcode analysis reveals debris is 22-57% from non-local sources. Litter associated with COVID-19 was identified for the first time just as pandemic start
摘要本研究考察了新冠肺炎大流行对以色列海岸海洋垃圾污染的影响,以色列海岸是地中海大规模环流的终点区域。对以色列地中海沿岸的四个海滩进行了垃圾调查。采样是在2019年6月、9月和12月疫情前进行的;在疫情的第一年,即2020年3月、6月、9月和12月;以及在2021年3月新冠疫情的第二年。研究显示,在疫情爆发的第一年,海滩垃圾浓度减少了47 ± 27%在所有海滩上。大部分泳滩的垃圾在第二年继续减少(34 ± 22%的减少),并且在塑料制品中最为明显,塑料制品具有很高的漂浮和长途旅行的潜力。疫情期间,以色列海滩垃圾浓度的下降具有统计学意义。条形码分析表明,海岸上出现了非以色列碎片(新冠肺炎前为22-81%,新冠肺炎期间为5-47%),这支持了海洋垃圾污染减少受到当地和其他沿海邻国海滩活动减少影响的假设。疫情的另一个影响是,受疫情法规和限制的影响,2020年4月出现了一次性塑料口罩和手套。尽管新冠肺炎期间海滩海洋垃圾浓度下降,但在这个人口稠密的沿海地区,塑料污染是一个高度关注的问题。我们的数据集为地方和地区法规进一步减少海滩垃圾污染的潜力提供了指示,并为这些过程的持续监测提供了基线。重点研究了新冠肺炎对以色列海岸海滩垃圾污染的影响新冠肺炎大流行期间海滩垃圾浓度显著下降。条形码分析显示,22-57%的碎片来自非本地来源。在大流行开始之际,首次发现与新冠肺炎有关的垃圾
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引用次数: 5
Carbon and Water Footprints of Marinas in the Canary Islands (Spain) 加那利群岛水手的碳足迹和水足迹(西班牙)
IF 2.5 4区 环境科学与生态学 Q4 ENVIRONMENTAL SCIENCES Pub Date : 2022-06-01 DOI: 10.1080/08920753.2022.2082856
N. Cruz-Pérez, Marie-Denise Dessimoz, J. Rodríguez-Martín, Celso García, F. Ioraș, J. C. Santamarta
Abstract The Canary Islands have a maritime position, and there are many ports along their coasts, including commercial, passenger transport and marinas, which is the case studied here. This document aims to determine the impact of marinas on the environment. To achieve this, carbon and water footprint calculation tools were used. A survey was developed and sent to the managers of the marinas, with questions that addressed three areas of the carbon footprint and the blue water in the water footprint calculation. Once the completed surveys were received, the data were processed and converted into tons of CO2 equivalent, using emission factors published in official Spanish sources. The amount of greenhouse gases produced by the marinas studied was obtained. One of the most remarkable findings is that companies working for the marinas (scope 3) have an important effect on the calculation, since not only the marina’s own activities generate emissions but also the movement of vehicles of companies related to this facility.
摘要加那利群岛具有海洋地位,其海岸有许多港口,包括商业、客运和码头,这就是本文所研究的案例。本文件旨在确定码头对环境的影响。为此,使用了碳足迹和水足迹计算工具。制定了一份调查报告并发送给码头管理人员,其中涉及水足迹计算中碳足迹和蓝水的三个领域。一旦收到完成的调查,就使用西班牙官方来源公布的排放系数对数据进行处理,并将其转换为二氧化碳当量吨。获得了所研究的码头产生的温室气体量。最显著的发现之一是,为码头工作的公司(范围3)对计算有重要影响,因为不仅码头自身的活动会产生排放,而且与该设施相关的公司的车辆移动也会产生排放。
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引用次数: 3
De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy. 一名患有全面发育迟缓、自闭症谱系障碍和癫痫性脑病的患者体内的 GRIA2 发生了新的错义突变。
IF 1.8 4区 环境科学与生态学 Q4 ENVIRONMENTAL SCIENCES Pub Date : 2022-05-09 DOI: 10.1101/mcs.a006172
Maeson S Latsko, Daniel C Koboldt, Samuel J Franklin, Scott E Hickey, Rachel K Williamson, Shannon Garner, Adam P Ostendorf, Kristy Lee, Peter White, Richard K Wilson

De novo variants are increasingly recognized as a common cause of early infantile epileptic encephalopathies. We present a 4-year-old male with epileptic encephalopathy characterized by seizures, autism spectrum disorder, and global developmental delay. Whole genome sequencing of the proband and his unaffected parents revealed a novel de novo missense variant in GRIA2 (c.1589A>T; p.Lys530Met; ENST00000264426.14). Variants in the GRIA2 gene were recently reported to cause an autosomal dominant neurodevelopmental disorder with language impairments and behavioral abnormalities (OMIM; MIM #618917), a condition characterized by intellectual disability and developmental delay in which seizures are a common feature. The de novo variant identified in our patient maps to the edge of a key ligand binding domain of the AMPA receptor and has not been previously reported in gnomAD or other public databases, making it novel. Our findings provided a long-sought diagnosis for this patient and support the link between GRIA2 and a dominant neurodevelopmental disorder.

新发变异越来越被认为是早期婴儿癫痫性脑病的常见病因。我们报告了一名 4 岁男性癫痫性脑病患者,其特征为癫痫发作、自闭症谱系障碍和全面发育迟缓。对该患者及其未受影响的父母进行的全基因组测序发现,GRIA2存在一个新的从头错义变异(c.1589A>T; p.Lys530Met; ENST00000264426.14)。最近有报道称,GRIA2基因的变异可导致一种常染色体显性神经发育障碍,并伴有语言障碍和行为异常(OMIM; MIM #618917),这种疾病以智力障碍和发育迟缓为特征,癫痫发作是其常见特征。在我们的患者身上发现的新变异映射到了 AMPA 受体的一个关键配体结合域的边缘,以前在 gnomAD 或其他公共数据库中都没有报道过,因此具有新颖性。我们的研究结果为这名患者提供了一个寻找已久的诊断结果,并支持了 GRIA2 与显性神经发育障碍之间的联系。
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引用次数: 0
期刊
Coastal Management
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