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Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26.

ABSTRACT: 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.

SUBMITTER: Ikeda H

PROVIDER: S-EPMC1377762 | biostudies-other | 1999 Feb

REPOSITORIES: biostudies-other

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Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26.

Ikeda H H Sasaki T T Yoshimoto T T Fukui M M Arinami T T

American journal of human genetics 19990201 2

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, i ...[more]

PMID: 9973290

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