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Article

Functional analysis of a novel splice site variant in the ASAH1 gene.

Molecular genetics & genomic medicine - 1 Jan 2024

Yan Shujuan, Fu Fang, Zhou Hang, Huang Ruibin, Wang You, Liao Can

Abstract excerpt

BACKGROUND: Acid ceramidase (ACDase) deficiency is an ultrarare autosomal recessive lysosomal disorder caused by pathogenic N-acylsphingosine amidohydrolase (ASAH1) variants. It presents with either Farber disease (FD) or spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). OBJECTIVE: The study aims to identify a novel splice site variant in a hydrops fetus that causes ASAH1-related disorder,...

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Identifiers

PMID: 37962265
DOI: 10.1002/mgg3.2317
PMCID: PMC10767590

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