Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient
Abstract
Sialidosis is a lysosomal storage disease caused by the deficiency of α- N-acetylneuraminidase (NEU1; sialidase), the key enzyme for the intralysosomal catabolism of sialylated glycoconjugates. We have identified a homozygous transversion in the last intron (IVSE +1 G>C) in neu1 of a sialidosis patient. Sequencing of the truncated cDNA revealed an alternatively spliced neu1 transcript which lacks the complete sequence of exon 5. Skipping of exon 5 leads to a frameshift and results in a premature termination codon. This is the first description of an intronic point mutation causing a complete deficiency of the lysosomal neuraminidase activity.
- Publication:
-
FEBS Letters
- Pub Date:
- January 2001
- DOI:
- 10.1016/S0014-5793(01)02645-X
- Bibcode:
- 2001FEBSL.501..135P
- Keywords:
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- Lysosomal neuraminidase;
- Mutation;
- Donor splice site;
- Exon skipping;
- Sialidosis