Functional analysis of a novel splice site variant in the ASAH1 gene
Shujuan Yan,
Fang Fu,
Hang Zhou
et al.
Abstract:BackgroundAcid 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).ObjectiveThe study aims to identify a novel splice site variant in a hydrops fetus that causes ASAH1‐related disorder, aid genetic counseling, and accurate prenatal diagnosis.MethodsWe report a case of hydrops fetalis with a … Show more
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