title: Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
abstract: Direct genomic DNA sequencing fails to detect epsilon-sarcoglycan (SGCE) mutations in up to 30% of familial myoclonus-dystonia (M-D) cases. We identified novel large heterozygous deletions of SGCE exon 5 or exon 6 in two M-D pedigrees. Like nonsense mutations, exon rearrangements result in the generation of premature stop codons downstream of the deleted exon. SGCE exon dosage assays may identify additional families with SGCE mutation and thus reduce "genetic heterogeneity."
authors.affiliation: Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Tübingen, Germany. friedrich.asmus@uni-tuebingen.de
authors.forename: Friedrich
authors.initials: F
authors.lastname: Asmus
authors.forename: Farid
authors.initials: F
authors.lastname: Salih
authors.forename: Lena Elisabeth
authors.initials: LE
authors.lastname: Hjermind
authors.forename: Karen
authors.initials: K
authors.lastname: Ostergaard
authors.forename: Marita
authors.initials: M
authors.lastname: Munz
authors.forename: Andrea A
authors.initials: AA
authors.lastname: Kühn
authors.forename: Erik
authors.initials: E
authors.lastname: Dupont
authors.forename: Andreas
authors.initials: A
authors.lastname: Kupsch
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D006801:Humans; D008297:Male; D009207:Myoclonus / Q000235:genetics*; D010375:Pedigree; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D049031:Sarcoglycans / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D049031:Sarcoglycans