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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset
N Pineda-Trujillo1, W Cornejo, J Carrizosa
1Genetica Molecular, Facultad de Medicina, Universidad de Antioquia, Medellin, Colombia.
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.
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