title: Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
abstract: A number of variant forms of the neuronal ceroid lipofuscinoses (NCL) have been described and remain unmapped. The genes for infantile (CLN1), juvenile (CLN3) and Finnish-variant late-infantile (CLN5) have previously been mapped to chromosome regions 1p32, 16p12 and 13q21.1-32 respectively. The locus for a variant form of juvenile onset NCL characterised by cytosomal granular osmiophilic deposits (GROD) has been excluded from the CLN3 region of chromosome 16. This study describes the outcome of genetic linkage analysis in four families with this variant at the loci for the CLN1 and CLN5 genes. Using highly informative microsatellite markers tightly linked to the CLN5 locus we have excluded the JNCL variant with GROD from this region. Marker typing across the CLN1 region suggests that JNCL with GROD may be an allelic variant of infantile NCL.
authors.affiliation: Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom.
authors.forename: A
authors.initials: A
authors.lastname: O'Rawe
authors.forename: H M
authors.initials: HM
authors.lastname: Mitchison
authors.forename: R
authors.initials: R
authors.lastname: Williams
authors.forename: R
authors.initials: R
authors.lastname: Wheeler
authors.forename: E
authors.initials: E
authors.lastname: Andermann
authors.forename: F
authors.initials: F
authors.lastname: Andermann
authors.forename: Y M
authors.initials: YM
authors.lastname: Hart
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: M
authors.initials: M
authors.lastname: Philippart
authors.forename: J B
authors.initials: JB
authors.lastname: Stephenson
authors.forename: R M
authors.initials: RM
authors.lastname: Gardiner
authors.forename: S E
authors.initials: SE
authors.lastname: Mole
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002882:Chromosomes, Human, Pair 13; D002885:Chromosomes, Human, Pair 16; D016213:Cyclins; D003594:Cytoplasmic Granules / Q000235:genetics* / Q000473:pathology; D005060:Europe; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D008562:Membrane Glycoproteins / Q000235:genetics; D018832:Molecular Chaperones / Q000235:genetics; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D029701:Saccharomyces cerevisiae Proteins; D014481:United States
chemical_list: C079895:CLN3 protein, S cerevisiae; C105199:CLN3 protein, human; D016213:Cyclins; D005819:Genetic Markers; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D029701:Saccharomyces cerevisiae Proteins