A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report
Glu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme.Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant.Glu178Lys is the first ever variant reported at the critical active site of aspartoacylase protein and this variant might significantly disrupt substrate interaction.
Authors
- Ashwin Bhikaji Dalal (ORCID: https://orcid.org/0000-0001-5929-745X)
- Kalpana Ramesh Yelsangikar (ORCID: https://orcid.org/0009-0003-3366-3089)
- K Siddappa
- Shilpa Krishnapura Lakshminarayana (ORCID: https://orcid.org/0000-0002-6497-8134)
- Mallesh Kariyappa (ORCID: https://orcid.org/0000-0002-1538-2342)
- Dhanalakshmi Kumble
- Lakshmi Thangavelu (ORCID: https://orcid.org/0000-0001-5662-1410)
- Archana Vaddinahalli Kariyappa
Publication Details
- Journal
- The Journal of Pediatric Research
- Published
- 2024-12-10
- DOI
- https://doi.org/10.4274/jpr.galenos.2024.55706
- Primary Topic
- Advanced MRI Techniques and Applications
- Type
- article
- Field-Weighted Citation Impact
- 0.00