A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.
We describe the clinical, neuropathological and molecular findings from a patient affected with neuronal ceroid lipofuscinosis with a juvenile onset (JNCL). She was a 9-year-old right-handed girl with a normal birth and early developmental milestones. At the age of 4 the early symptoms began. Skin biopsy showed granular osmiophilic deposits (GRODs). Because JNCL with GRODs is caused by mutations in the CNL1 gene, we performed a molecular investigation by direct sequencing of nine exons of the CNL1 gene. This analysis revealed a novel mutation in homozygous form in the exon 7 that caused an aminoacid substitution at codon 222 (Leu --> Pro). Direct sequencing of the exon 7 in both parents showed the same substitution in heterozygous form.
Mazzei
Rosalucia
R
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
Conforti
Francesca L
FL
Magariello
Angela
A
Bravaccio
Carmela
C
Militerni
Roberto
R
Gabriele
Anna L
AL
Sampaolo
Simone
S
Patitucci
Alessandra
A
Di Iorio
Giuseppe
G
Muglia
Maria
M
Quattrone
Aldo
A
D019943:Amino Acid Substitution / Q000235:genetics; D002648:Child; D003594:Cytoplasmic Granules / Q000473:pathology / Q000648:ultrastructure; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D013869:Thiolester Hydrolases
D008565:Membrane Proteins; D013869:Thiolester Hydrolases; C416054:PPT1 protein, human