title: A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.
abstract: 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.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
authors.forename: Rosalucia
authors.initials: R
authors.lastname: Mazzei
authors.forename: Francesca L
authors.initials: FL
authors.lastname: Conforti
authors.forename: Angela
authors.initials: A
authors.lastname: Magariello
authors.forename: Carmela
authors.initials: C
authors.lastname: Bravaccio
authors.forename: Roberto
authors.initials: R
authors.lastname: Militerni
authors.forename: Anna L
authors.initials: AL
authors.lastname: Gabriele
authors.forename: Simone
authors.initials: S
authors.lastname: Sampaolo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Patitucci
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Di Iorio
authors.forename: Maria
authors.initials: M
authors.lastname: Muglia
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: 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
chemical_list: D008565:Membrane Proteins; D013869:Thiolester Hydrolases; C416054:PPT1 protein, human