title: Autosomal dominant moyamoya disease maps to chromosome 17q25.3.
abstract: BACKGROUND
  Moyamoya disease (MMD) is an idiopathic steno-occlusive cerebrovascular disease that represents an important cause of stroke. However, etiology of the disease has remained largely unknown.
  
  
  METHODS
  We previously showed that the inheritance pattern of MMD is autosomal dominant with incomplete penetrance. Here, we report the genome-wide parametric linkage analysis for MMD in 15 extended Japanese families. We conducted linkage analyses under two diagnostic classifications: narrow and broad. Affected member-only analysis was applied due to incomplete and age-dependent penetrance of the disease.
  
  
  RESULTS
  Under both classifications, significant evidence of linkage was only observed on chromosome 17q25.3, with maximum multipoint logarithm of odds (lod) scores of 6.57 (under the narrow classification) and 8.07 (under the broad classification) at D17S704. Haplotype analysis revealed segregation of a disease haplotype in all families but one, and informative crossovers enabled mapping of the MMD locus to a 3.5-Mb region between D17S1806 and the telomere of 17q, encompassing 94 annotated genes.
  
  
  CONCLUSIONS
  Our data suggest that there is a major gene locus for autosomal dominant moyamoya disease on chromosome 17q25.3.
authors.affiliation: Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Mineharu
authors.forename: W
authors.initials: W
authors.lastname: Liu
authors.forename: K
authors.initials: K
authors.lastname: Inoue
authors.forename: N
authors.initials: N
authors.lastname: Matsuura
authors.forename: S
authors.initials: S
authors.lastname: Inoue
authors.forename: K
authors.initials: K
authors.lastname: Takenaka
authors.forename: H
authors.initials: H
authors.lastname: Ikeda
authors.forename: K
authors.initials: K
authors.lastname: Houkin
authors.forename: Y
authors.initials: Y
authors.lastname: Takagi
authors.forename: K
authors.initials: K
authors.lastname: Kikuta
authors.forename: K
authors.initials: K
authors.lastname: Nozaki
authors.forename: N
authors.initials: N
authors.lastname: Hashimoto
authors.forename: A
authors.initials: A
authors.lastname: Koizumi
mesh_terms: D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008126:Lod Score; D008297:Male; D009072:Moyamoya Disease / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree