ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
ASAH1
Farber disease
N-acylsphingosine amidohydrolase 1
acid ceramidase
acid ceramidase deficiency (ACD)
lysosomal storage disorder
spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
26
11
2019
revised:
28
04
2020
accepted:
16
05
2020
pubmed:
26
5
2020
medline:
11
11
2021
entrez:
26
5
2020
Statut:
ppublish
Résumé
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 The curation of known ASAH1 pathogenic variants using a single reference transcript includes 10 previously unpublished from the NHS and 63 that were previously reported.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.
Substances chimiques
ASAH1 protein, human
EC 3.5.1.23
Acid Ceramidase
EC 3.5.1.23
Banques de données
ClinicalTrials.gov
['NCT03233841']
Types de publication
Journal Article
Observational Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1469-1487Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
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