title: Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
abstract: The hereditary spastic paraplegias (HSPs) comprise a group of genetically heterogeneous neurodegenerative diseases. Here, we evaluated the spectrum and frequency of mutations in the CYP7B1, PNPLA6 and C19orf12 genes (causative for the subtypes SPG5A, SPG39 and SPG43, respectively) in a cohort of 63 unrelated HSP patients with suspected autosomal recessive inheritance. Two novel homozygous mutations (one frameshift and one missense mutation) were detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for SPG39 or SPG43.
authors.affiliation: Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany; University Witten/Herdecke, Faculty of Health, 58448 Witten, Germany; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.
authors.forename: Sarah F
authors.initials: SF
authors.lastname: Schubert
authors.affiliation: Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Hoffjan
authors.affiliation: Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany. Electronic address: gabriele.dekomien@rub.de.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Dekomien
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D015331:Cohort Studies; D000072474:Cytochrome P450 Family 7; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D010740:Phospholipases / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D013250:Steroid Hydroxylases / Q000235:genetics*; D000217:Acyltransferases
chemical_list: D000072474:Cytochrome P450 Family 7; D024101:Mitochondrial Proteins; D010740:Phospholipases; D013250:Steroid Hydroxylases; C568481:C19orf12 protein, human; C499571:CYP7B1 protein, human; C586915:PNPLA6 protein, human; D000217:Acyltransferases
keywords: C19orf12; CYP7B1; Hereditary spastic paraplegia; Mutational analysis; PNPLA6