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ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Human Mutation ( IF 3.3 ) Pub Date : 2020-05-25 , DOI: 10.1002/humu.24056 Sarah H Elsea 1 , Alexander Solyom 2 , Kirt Martin 1 , Paul Harmatz 3 , John Mitchell 4 , Christina Lampe 5 , Christina Grant 6 , Laila Selim 7 , Neslihan Oneli Mungan 8 , Norberto Guelbert 9 , Bo Magnusson 10 , Erik Sundberg 10 , Ratna Puri 11 , Seema Kapoor 12 , Nur Arslan 13 , Maja DiRocco 14 , Maha Zaki 15 , Seza Ozen 16 , Iman G Mahmoud 7 , Karoline Ehlert 17 , Andreas Hahn 5 , Gulden Gokcay 18 , Marta Torcoletti 19 , Carlos R Ferreira 20
Human Mutation ( IF 3.3 ) Pub Date : 2020-05-25 , DOI: 10.1002/humu.24056 Sarah H Elsea 1 , Alexander Solyom 2 , Kirt Martin 1 , Paul Harmatz 3 , John Mitchell 4 , Christina Lampe 5 , Christina Grant 6 , Laila Selim 7 , Neslihan Oneli Mungan 8 , Norberto Guelbert 9 , Bo Magnusson 10 , Erik Sundberg 10 , Ratna Puri 11 , Seema Kapoor 12 , Nur Arslan 13 , Maja DiRocco 14 , Maha Zaki 15 , Seza Ozen 16 , Iman G Mahmoud 7 , Karoline Ehlert 17 , Andreas Hahn 5 , Gulden Gokcay 18 , Marta Torcoletti 19 , Carlos R Ferreira 20
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Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy are a spectrum of rare lysosomal storage disorders characterized by acid ceramidase deficiency (ACD), resulting from pathogenic variants in N‐acylsphingosine amidohydrolase 1 (ASAH1). Other than simple listings provided in literature reviews, a curated, comprehensive list of ASAH1 mutations associated with ACD clinical phenotypes has not yet been published. This publication includes mutations in ASAH1 collected through the Observational and Cross‐Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease (NHS), ClinicalTrials.gov identifier NCT03233841, in combination with an up‐to‐date curated list of published mutations. The NHS is the first to collect retrospective and prospective data on living and deceased patients with ACD presenting as Farber disease, who had or had not undergone hematopoietic stem cell transplantation. Forty‐five patients representing the known clinical spectrum of Farber disease (living patients aged 1–28 years) were enrolled. The curation of known ASAH1 pathogenic variants using a single reference transcript includes 10 previously unpublished from the NHS and 63 that were previously reported. The publication of ASAH1 variants will be greatly beneficial to patients undergoing genetic testing in the future by providing a significantly expanded reference list of disease‐causing variants.
中文翻译：
与酸性神经酰胺酶缺乏相关的ASAH1致病变异：法伯病和脊髓性肌萎缩伴进行性肌阵挛性癫痫。
Farber 病和脊髓性肌萎缩伴进行性肌阵挛性癫痫是一系列罕见的溶酶体贮积症，其特征是酸性神经酰胺酶缺乏症 (ACD)，由 N-酰基鞘氨醇酰胺水解酶 1 ( ASAH1 ) 的致病变异引起。除了文献综述中提供的简单列表之外，尚未发布与 ACD 临床表型相关的ASAH1突变的精选综合列表。本出版物包括ASAH1 中的突变通过法伯病自然史和表型谱 (NHS) 的观察性和横断面队列研究收集，ClinicalTrials.gov 标识符 NCT03233841，结合最新的已发布突变精选列表。NHS 是第一个收集 ACD 患者（表现为 Farber 病）的回顾性和前瞻性数据的机构，这些患者曾接受或未接受造血干细胞移植。纳入了代表法伯病已知临床谱的 45 名患者（年龄在 1-28 岁之间的活着的患者）。使用单个参考转录本对已知的ASAH1致病变异进行的处理包括 10 个以前未从 NHS 发表的和 63 个以前报告过的。ASAH1的发布 通过提供显着扩展的致病变异参考列表，变异将极大地有益于未来接受基因检测的患者。
更新日期：2020-05-25
中文翻译：
与酸性神经酰胺酶缺乏相关的ASAH1致病变异：法伯病和脊髓性肌萎缩伴进行性肌阵挛性癫痫。
Farber 病和脊髓性肌萎缩伴进行性肌阵挛性癫痫是一系列罕见的溶酶体贮积症，其特征是酸性神经酰胺酶缺乏症 (ACD)，由 N-酰基鞘氨醇酰胺水解酶 1 ( ASAH1 ) 的致病变异引起。除了文献综述中提供的简单列表之外，尚未发布与 ACD 临床表型相关的ASAH1突变的精选综合列表。本出版物包括ASAH1 中的突变通过法伯病自然史和表型谱 (NHS) 的观察性和横断面队列研究收集，ClinicalTrials.gov 标识符 NCT03233841，结合最新的已发布突变精选列表。NHS 是第一个收集 ACD 患者（表现为 Farber 病）的回顾性和前瞻性数据的机构，这些患者曾接受或未接受造血干细胞移植。纳入了代表法伯病已知临床谱的 45 名患者（年龄在 1-28 岁之间的活着的患者）。使用单个参考转录本对已知的ASAH1致病变异进行的处理包括 10 个以前未从 NHS 发表的和 63 个以前报告过的。ASAH1的发布 通过提供显着扩展的致病变异参考列表，变异将极大地有益于未来接受基因检测的患者。
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