title: A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?
abstract: We report the first known case in Israel of a patient with an early childhood onset of ceroid-lipofuscinosis who is homozygous to a mutation of the CLN8 gene. This patient further expands the clinical varieties of CLN8, initially reported in Finland and Turkey and recently in Italy. The ultrastructural pathology of a skin biopsy specimen revealed abundant typical fingerprint profiles, but rare granular osmiophilic bodies and curvilinear structures. Sequencing of exon 3 of the CLN8 gene revealed a novel C>G missense mutation at a conserved amino acid glutamine 256 to glutamic acid. Our findings further raise the possibility of the existence of a Mediterranean CLN8 variant.
authors.affiliation: Department of Pediatrics, Carmel Medical Center, and Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. nzelnik@netvision.net.il
authors.forename: Nathanel
authors.initials: N
authors.lastname: Zelnik
authors.forename: Muhammad
authors.initials: M
authors.lastname: Mahajna
authors.forename: Theodore C
authors.initials: TC
authors.lastname: Iancu
authors.forename: Reuven
authors.initials: R
authors.lastname: Sharony
authors.forename: Marsha
authors.initials: M
authors.lastname: Zeigler
mesh_terms: D002675:Child, Preschool; D004847:Epithelial Cells / Q000473:pathology / Q000648:ultrastructure; D006720:Homozygote; D006801:Humans; D007557:Israel; D008297:Male; D019083:Mediterranean Region; D008565:Membrane Proteins / Q000235:genetics*; D008854:Microscopy, Electron; D020125:Mutation, Missense; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics* / Q000473:pathology; D010641:Phenotype
chemical_list: C121767:CLN8 protein, human; D008565:Membrane Proteins