Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26.
Moyamoya disease is characterized by bilateral stenosis and/or occlusion of the terminal portion of the internal carotid artery. Moyamoya disease is prevalent among patients <10 years of age. Although most cases appear to be sporadic, approximately 10% occur as familial cases. The incidence of familial cases has been increasing because noninvasive diagnostic equipment, such as magnetic-resonance imaging and magnetic-resonance angiography, can detect the disease in almost all affected patients, including asymptomatic patients, during screening studies. In this study, we performed a total genome search to identify the location of a familial moyamoya disease gene in 16 families, assuming an unknown mode of inheritance. A linkage was found between the disease and markers located at 3p24.2-26. A maximum NPL score of 3.46 was obtained with marker D3S3050. This is the first genetic locus found to be involved in the molecular pathogenesis of familial moyamoya disease.
Ikeda
H
H
Department of Neurosurgery, Tohoku University School of Medicine, 1-1Seiryo-machi, Aoba-ku, Sendai, Japan. ikeda@nsg.med.tohoku.ac.jp
Sasaki
T
T
Yoshimoto
T
T
Fukui
M
M
Arinami
T
T
D001483:Base Sequence; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics; D008040:Genetic Linkage; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009072:Moyamoya Disease / Q000235:genetics*; D010375:Pedigree