A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy

A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy

Abstract Background Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disorder caused by ASAH1 gene variants. Although ASAH1 coding variants cause SMA-PME, the impact of noncoding variants, particularly noncanonical splice-site variants, is less clea...

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Bibliographic Details
Main Authors: Jinli Bai, Ping Li, Hui Jiao, Yuwei Jin, Hong Wang, Qinglin Jiang, Fang Song, Xiaoyin Peng, Yujin Qu
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Italian Journal of Pediatrics
Subjects:
Spinal muscular atrophy with progressive myoclonic epilepsy
Genetic diagnosis
Intronic variant
Aberrant splicing
Online Access:https://doi.org/10.1186/s13052-025-02058-9
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https://doi.org/10.1186/s13052-025-02058-9

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