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.
Pineda-Trujillo
N
N
Genetica Molecular, Facultad de Medicina, Universidad de Antioquia, Medellin, Colombia.
Cornejo
W
W
Carrizosa
J
J
Wheeler
R B
RB
Múnera
S
S
Valencia
A
A
Agudelo-Arango
J
J
Cogollo
A
A
Anderson
G
G
Bedoya
G
G
Mole
S E
SE
Ruíz-Linares
A
A
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
C113332:CLN5 protein, human; D003062:Codon; D051907:Lysosomal Membrane Proteins; D008565:Membrane Proteins