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Observational Study
. 2020 Sep;41(9):1469-1487.
doi: 10.1002/humu.24056. Epub 2020 Jun 24.

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

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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Observational Study

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy (VSports手机版)

Sarah H Elsea et al. Hum Mutat. 2020 Sep.

Abstract

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 The curation of known ASAH1 pathogenic variants using a single reference transcript includes 10 previously unpublished from the NHS and 63 that were previously reported.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. VSports手机版.

Keywords: 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) V体育安卓版. .

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REFERENCES

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