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

Article Abstract:

A familial moyamoya disease gene has been mapped to chromosome 3p13.1-p26, the first genetic locus found for the disease. The disease, which is prevalent in patients younger than 10, in most cases is apparently sporadic, but about 10% of cases are familial. A genomewide search was carried out in 16 families. Spontaneous occlusion of the circle of Willis or moyamoya disease is characterized by occlusion of the terminal portion of the internal carotid artery and/or bilateral stenosis.

Japan, Health aspects, Usage, Abnormalities, Pediatric diseases, Children, Diseases, Genetic aspects, Brain, Chromosome mapping, Carotid artery diseases, Familial diseases, Movement disorders, Brain abnormalities, Movement disorders in children

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Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation

Article Abstract:

Studies support a link between Marfan syndrome and parental genetic origin. This connective tissue disorder has been identified through genotyping, but required sensitive and quantitative solid-phase minisequencing to eliminate possible carrier locations. Since the mutation could not be identified in a paternal sperm sample, the mosaicism may be maternal in origin.

Finland, Connective tissue diseases, Marfan syndrome

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