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Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.

Authors :
Bonsignore, Maria
Tessa, Alessandra
Rosa, Gabriella Di
Piemonte, Fiorella
Dionisi-Vici, Carlo
Simonati, Alessandro
Calamoneri, Filippo
Tortorella, Gaetano
Santorelli, Filippo M.
Source :
European Journal of Paediatric Neurology; May2006, Vol. 10 Issue 3, p154-156, 3p
Publication Year :
2006

Abstract

Abstract: We detected a novel CLN1 mutation (c.125-15t>g) in two Italian siblings. The clinical phenotype is that of a variant late-infantile neuronal ceroid lipofuscinosis and consisted of early-onset visual loss, psychomotor deterioration, and seizures. Ultrastructurally, granular osmiophilic deposits were found in skin biopsy of both patients. The novel mutation occurs in the acceptor sequences for splicing and leads to skipping of multiple exons. This predicts a protein lacking part or all of the active site of the enzyme and the palmitate-binding pocket. Consequently, biochemical activity of the palmitoyl protein thioesterase-1 enzyme was drastically reduced. The new mutation was not identified in a large set of ethnically matched control chromosomes. Our findings support the notion that CLN1 patients are not rare in Southern Europe and facilitate DNA-based mutation and carrier testing in this family. [Copyright &y& Elsevier]

Details

Language :
English
ISSN :
10903798
Volume :
10
Issue :
3
Database :
Supplemental Index
Journal :
European Journal of Paediatric Neurology
Publication Type :
Academic Journal
Accession number :
21621829
Full Text :
https://doi.org/10.1016/j.ejpn.2006.04.002