Article

A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease

2024-12-21

Abstract excerpt

Canavan disease (CD) is a neurodegenerative disorder caused by biallelic disease-causing variants in the ASPA gene. Here, we utilized long-read sequencing (LRS) to investigate eight individuals clinically diagnosed with Canavan disease but without definitive genetic diagnoses. Our analyses identified a recurring previously unreported intronic SVA_E retrotransposon insertion within ASPA in all eight individuals. Su...

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Literature Corpus work: 4727067c-fd69-546e-aa8b-cafae3eba879
DOI: 10.1101/2024.12.18.24318806

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