Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL.
Neuronal ceroid lipofuscinoses (NCLs) in children are progressive encephalopathies inherited as autosomal recessive traits. Progressive neuronal damage leads to psychomotor deterioration, visual failure, seizures, and finally to premature death. Based on the clinical course of the disease, the childhood forms can be divided into several subtypes. A variant form of the late infantile NCL (vLINCL), characterized by mental retardation, visual failure, ataxia, myoclonia, and death between the ages of 13 and 30 years, is prevalent in Finland. Information on ancient recombination events in disease alleles rising from this isolated population provided an efficient tool for refining the initial assignment of the CLN5 locus. Here we describe the steps resulting in the identification of the novel gene, defective in vLINCL.
Klockars
T
T
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Savukoski
M
M
Isosomppi
J
J
Peltonen
L
L
D015152:Blotting, Northern; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D018703:Founder Effect; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D051907:Lysosomal Membrane Proteins; D008565:Membrane Proteins / Q000235:genetics*; D008957:Models, Genetic; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D010375:Pedigree; D020161:Physical Chromosome Mapping; D014018:Tissue Distribution
C113332:CLN5 protein, human; D018388:Codon, Terminator; D051907:Lysosomal Membrane Proteins; D008565:Membrane Proteins