title: Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13.
abstract: In autosomal dominant acute necrotizing encephalopathy (ADANE), apparently healthy children develop necrotizing lesions in their thalami and brainstems in the course of febrile illnesses. We used DNA from affected subjects and obligate carriers to map ADANE to a 6.5Mb region on chromosome 2. Sequencing of four candidate genes in the interval (BCL2L11, ST6GalII, CHT1, and FLJ20019), involved in apoptosis, viral recognition, choline transport, and electron transport, showed no disease causing mutations.
authors.affiliation: Department of Pediatrics, Case Western Reserve University School of Medicine and Rainbow Babies and Children's Hospital, Cleveland, OH 44106, USA. den4@po.cwru.edu
authors.forename: Derek E
authors.initials: DE
authors.lastname: Neilson
authors.forename: Heidi S
authors.initials: HS
authors.lastname: Feiler
authors.forename: Kirk C
authors.initials: KC
authors.lastname: Wilhelmsen
authors.forename: Audrey
authors.initials: A
authors.lastname: Lynn
authors.forename: Robert M
authors.initials: RM
authors.lastname: Eiben
authors.forename: Douglas S
authors.initials: DS
authors.lastname: Kerr
authors.forename: Matthew L
authors.initials: ML
authors.lastname: Warman
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D004684:Leukoencephalitis, Acute Hemorrhagic / Q000235:genetics*; D008126:Lod Score; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction