TY - JOUR
T1 - Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis
AU - Bonsignore, Maria
AU - Tessa, Alessandra
AU - Di Rosa, Gabriella
AU - Piemonte, Fiorella
AU - Dionisi-Vici, Carlo
AU - Simonati, Alessandro
AU - Calamoneri, Filippo
AU - Tortorella, Gaetano
AU - Santorelli, Filippo M.
PY - 2006
Y1 - 2006
N2 - 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.
AB - 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.
KW - CLN1
KW - GRODs
KW - LINCL
KW - Novel mutation
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U2 - 10.1016/j.ejpn.2006.04.002
DO - 10.1016/j.ejpn.2006.04.002
M3 - Article
C2 - 16759889
AN - SCOPUS:33745894360
VL - 10
SP - 154
EP - 156
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
SN - 1090-3798
IS - 3
ER -