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Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.

Human gene therapy - 1 Sept 2025

Weiß Melina, Selig Mareike, Friedrich Johannes, Wierczeiko Anna, Diederich Stefan, Sigel Helen, Bredow Janna, Eichler Florian S, Nagy Amanda, Seyler Denise, Holthöfer Laura, Gerber Susanne, Schweiger Susann, Linke Matthias, Bley Annette

Abstract excerpt

Canavan disease (CD) is a rare autosomal recessive leukodystrophy caused by biallelic pathogenic variants in the ASPA gene. CD is characterized by developmental delay, macrocephaly, and abnormal muscle tone. The biochemical diagnosis is confirmed by increased N-acetylaspartic acid levels. The phenotypic presentation varies, with 85-90% of individuals exhibiting the severe, typical form, while 10-15% present with...

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Identifiers

PMID: 40257001
DOI: 10.1089/hum.2025.006
PMCID: PMC12596875

Genes

ASPA

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.PMID 40257001Read ↗

A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan DiseaseSemantic proximity Read ↗

Canavan Disease: Genomic Organization and Localization of Human ASPA to 17p13-ter and Conservation of the ASPA Gene during EvolutionSemantic proximity Read ↗

A novel aspartoacylase (ASPA) gene mutation in Canavan disease.Semantic proximity Read ↗

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.Semantic proximity Read ↗

A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis.Semantic proximity Read ↗

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.Semantic proximity Read ↗

Expression of aspartoacylase (ASPA) and Canavan disease.Semantic proximity Read ↗

Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.Semantic proximity Read ↗

Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.Semantic proximity Read ↗

Novel mutation in an Egyptian patient with infantile Canavan disease.Semantic proximity Read ↗

Human induced pluripotent stem cell line (SDQLCHi064-A) derived from a patient with Canavan disease carrying c.556_559dup GTTC and c.919delA mutations in the ASPA gene.Semantic proximity Read ↗

Reticular dysgenesis caused by an intronic pathogenic variant in AK2.Semantic proximity Read ↗

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