Abstract
Late infantile neuronal ceroid lipofuscinosis, LINCL, is one of the most common pediatric neurodegenerative disorders. It is caused by mutations in the CLN2 gene, which encodes a lysosomal pepstatin-insensitive peptidase (LPIP). We have identified a novel mutation, T523-1G --> A, by molecular analyses of three unrelated LINCL cases. The mutation was found to affect a 3' intronic splicing acceptor site, resulting in an aberrant mRNA with an insertion of 146 bp of intronic sequence. This causes a frame shift, produces a nonfunctional truncated protein, and results in LINCL.
Copyright 1999 Academic Press.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adenine
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Aminopeptidases
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Child
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Child, Preschool
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Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
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Endopeptidases
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Female
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Frameshift Mutation*
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Gene Frequency
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Guanine
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Humans
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Neuronal Ceroid-Lipofuscinoses / enzymology*
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Neuronal Ceroid-Lipofuscinoses / genetics*
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Neuronal Ceroid-Lipofuscinoses / pathology
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Peptide Hydrolases / genetics*
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RNA Splicing / genetics*
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RNA, Messenger / genetics
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Serine Proteases
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Tripeptidyl-Peptidase 1
Substances
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RNA, Messenger
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Tripeptidyl-Peptidase 1
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Guanine
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Endopeptidases
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Peptide Hydrolases
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Serine Proteases
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Aminopeptidases
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Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
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TPP1 protein, human
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Adenine