title: A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
abstract: Three related patients from Colombia presented with a juvenile-onset neuronal ceroid lipofuscinosis. Electron microscopy of one case showed condensed fingerprint profiles, and genetic analyses identified a novel missense mutation in CLN5. The authors demonstrate the existence of pathogenic CLN5 mutations outside northern Europe and that mutations in this gene can lead to an atypical late-onset neuronal ceroid lipofuscinosis disease, in addition to the late infantile form first described in Finland.
authors.affiliation: Genetica Molecular, Facultad de Medicina, Universidad de Antioquia, Medellin, Colombia.
authors.forename: N
authors.initials: N
authors.lastname: Pineda-Trujillo
authors.forename: W
authors.initials: W
authors.lastname: Cornejo
authors.forename: J
authors.initials: J
authors.lastname: Carrizosa
authors.forename: R B
authors.initials: RB
authors.lastname: Wheeler
authors.forename: S
authors.initials: S
authors.lastname: Múnera
authors.forename: A
authors.initials: A
authors.lastname: Valencia
authors.forename: J
authors.initials: J
authors.lastname: Agudelo-Arango
authors.forename: A
authors.initials: A
authors.lastname: Cogollo
authors.forename: G
authors.initials: G
authors.lastname: Anderson
authors.forename: G
authors.initials: G
authors.lastname: Bedoya
authors.forename: S E
authors.initials: SE
authors.lastname: Mole
authors.forename: A
authors.initials: A
authors.lastname: Ruíz-Linares
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001766:Blindness / Q000235:genetics; D002648:Child; D003062:Codon / Q000235:genetics; D003105:Colombia / Q000453:epidemiology; D003241:Consanguinity; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D051907:Lysosomal Membrane Proteins; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D008854:Microscopy, Electron; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009472:Neuronal Ceroid-Lipofuscinoses / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D014714:Vertebrates / Q000235:genetics
chemical_list: C113332:CLN5 protein, human; D003062:Codon; D051907:Lysosomal Membrane Proteins; D008565:Membrane Proteins