Mapping of a Familial Moyamoya Disease Gene to Chromosome 3p24.2-p26

Ikeda, Hidetoshi
Sasaki, Toru
Yoshimoto, Takashi
Fukui, Masashi
Arinami, Tadao

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Publication date

February 1999

DOI

10.1086/302243

Publisher

The American Society of Human Genetics. Published by Elsevier Inc.

ISSN

0002-9297

Citation count (estimate)

201

Abstract

SummaryMoyamoya 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, ∼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 th...