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dc.contributor.authorMahmoud, Iman G.
dc.contributor.authorHahn, Andreas
dc.contributor.authorDiRocco, Maja
dc.contributor.authorZaki, Maha
dc.contributor.authorOzen, Seza
dc.contributor.authorEhlert, Karoline
dc.contributor.authorFerreira, Carlos R.
dc.contributor.authorTorcoletti, Marta
dc.contributor.authorGokcay, Gülden Fatma
dc.contributor.authorElsea, Sarah H.
dc.contributor.authorSolyom, Alexander
dc.contributor.authorMartin, Kirt
dc.contributor.authorHarmatz, Paul
dc.contributor.authorMitchell, John
dc.contributor.authorLampe, Christina
dc.contributor.authorGrant, Christina
dc.contributor.authorSelim, Laila
dc.contributor.authorMungan, Neslihan Oneli
dc.contributor.authorGuelbert, Norberto
dc.contributor.authorMagnusson, Bo
dc.contributor.authorSundberg, Erik
dc.contributor.authorPuri, Ratna
dc.contributor.authorKapoor, Seema
dc.contributor.authorArslan, Nur
dc.date.accessioned2021-03-02T18:13:02Z
dc.date.available2021-03-02T18:13:02Z
dc.identifier.citationElsea S. H. , Solyom A., Martin K., Harmatz P., Mitchell J., Lampe C., Grant C., Selim L., Mungan N. O. , Guelbert N., et al., "ASAH1pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy", HUMAN MUTATION, 2020
dc.identifier.issn1059-7794
dc.identifier.otherav_e657f492-628a-4f19-aaaa-9ee5b9c9bb4f
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/4703
dc.identifier.urihttps://doi.org/10.1002/humu.24056
dc.description.abstractFarber 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 ofASAH1mutations associated with ACD clinical phenotypes has not yet been published. This publication includes mutations inASAH1collected through the Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease (NHS), 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 knownASAH1pathogenic variants using a single reference transcript includes 10 previously unpublished from the NHS and 63 that were previously reported. The publication ofASAH1variants will be greatly beneficial to patients undergoing genetic testing in the future by providing a significantly expanded reference list of disease-causing variants.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.titleASAH1pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy
dc.typeMakale
dc.relation.journalHUMAN MUTATION
dc.contributor.departmentBaylor College of Medicine , ,
dc.contributor.firstauthorID2211302


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