title: Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.
abstract: Myxoid heart disease is frequently encountered in the general population. It corresponds to an etiologically heterogeneous group of diseases, idiopathic mitral valve prolapse (IMVP) being the most common form. A rarely observed form of myxoid heart disease, X-linked myxomatous valvular dystrophy (XMVD), is inherited in an X-linked fashion and is characterized by multivalvular myxomatous degeneration; however, the histopathological features of the mitral valve do not differ significantly from the severe form of IMVP. In this article, we describe the genetic analysis of a large family in which XMVD is associated with a mild hemophilia A. The coagulation factor VIII gene position in Xq28 provided a starting point for the genetic study, which was conducted by use of polymorphic markers. Two-point linkage analysis confirmed this localization, and a maximum LOD score of 6.57 was found at straight theta=0 for two polymorphic microsatellite markers, INT-3 and DXS1008, the first one being intronic to the factor VIII gene. Haplotype analysis of this chromosomal region allowed the definition of an 8-cM minimal interval containing the gene for XMVD, between DXS8011 and Xqter.
authors.affiliation: Institut Nationale Santé Etude et Recherche Medical, Nantes, France.
authors.forename: F
authors.initials: F
authors.lastname: Kyndt
authors.forename: J J
authors.initials: JJ
authors.lastname: Schott
authors.forename: J N
authors.initials: JN
authors.lastname: Trochu
authors.forename: F
authors.initials: F
authors.lastname: Baranger
authors.forename: O
authors.initials: O
authors.lastname: Herbert
authors.forename: V
authors.initials: V
authors.lastname: Scott
authors.forename: E
authors.initials: E
authors.lastname: Fressinaud
authors.forename: A
authors.initials: A
authors.lastname: David
authors.forename: J P
authors.initials: JP
authors.lastname: Moisan
authors.forename: J B
authors.initials: JB
authors.lastname: Bouhour
authors.forename: H
authors.initials: H
authors.lastname: Le Marec
authors.forename: B
authors.initials: B
authors.lastname: Bénichou
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006467:Hemophilia A / Q000150:complications / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D008945:Mitral Valve Prolapse / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome