A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset
Copyright policy )A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset
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.
- University of Antioquia Colombia
- University College London United Kingdom
Male, Molecular Sequence Data, Mutation, Missense, Membrane Proteins, Exons, Colombia, Blindness, Lysosomal Membrane Proteins, Pedigree, Consanguinity, Genetic Heterogeneity, Microscopy, Electron, Neuronal Ceroid-Lipofuscinoses, Disease Progression, Animals, Humans, Female, Amino Acid Sequence, Child, Codon
Male, Molecular Sequence Data, Mutation, Missense, Membrane Proteins, Exons, Colombia, Blindness, Lysosomal Membrane Proteins, Pedigree, Consanguinity, Genetic Heterogeneity, Microscopy, Electron, Neuronal Ceroid-Lipofuscinoses, Disease Progression, Animals, Humans, Female, Amino Acid Sequence, Child, Codon
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