title: Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families.
abstract: Cerebral cavernous angiomas malformations (CCM) can be inherited as an autosomal dominant condition. CCM1, a yet unidentified gene mapping on 7q21-q22, was shown to be involved in all CCM Hispano-American families, with a strong founder effect. Genetic heterogeneity in non Hispano-American families was established in two families. We conducted a genetic linkage analysis on 36 French CCM families using eight microsatellite markers mapping within the CCM1 interval. Admixture analysis showed that 65% of these families were linked to the CCM1 locus. Haplotypes analysis of CCM1-linked families did not show any evidence for a strong founder effect.
authors.affiliation: INSERM U25, Faculté de Médecine Necker, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Laberge
authors.forename: P
authors.initials: P
authors.lastname: Labauge
authors.forename: E
authors.initials: E
authors.lastname: Maréchal
authors.forename: J
authors.initials: J
authors.lastname: Maciazek
authors.forename: E
authors.initials: E
authors.lastname: Tournier-Lasserve
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics*; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D005260:Female; D018703:Founder Effect; D005602:France; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006392:Hemangioma, Cavernous / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D044465:White People / Q000235:genetics