Exclusion mapping of the genetic predisposition for cervical artery dissections by linkage analysis.
Skin biopsies from a patient with a dissection of the left internal carotid artery and from four of his children were analyzed by electron microscopy. The index patient and three children showed mild but regular electron microscopic connective tissue aberrations. They were considered as carriers of an unknown autosomal dominant mutation. Thirty-four candidate genes involved in the biosynthesis of the extracellular matrix were excluded by genetic linkage analysis as possible sites of a disease-causing mutation in this family (logarithm of odds [LOD]-score less than -2.0).
Grond-Ginsbach
Caspar
C
Department of Neurology, University of Heidelberg, Heidelberg, Germany. grond-ginsbach@med.uni-heidelberg.de
Klima
Bernhard
B
Weber
Ralf
R
Striegel
Johannes
J
Fischer
Christine
C
Hacke
Werner
W
Brandt
Tobias
T
Hausser
Ingrid
I
D001706:Biopsy; D020215:Carotid Artery, Internal, Dissection / Q000235:genetics* / Q000473:pathology; D002648:Child; D002874:Chromosome Mapping; D003094:Collagen / Q000648:ultrastructure; D003240:Connective Tissue Diseases / Q000235:genetics / Q000473:pathology; D020405:Dermis / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008126:Lod Score; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype
D003094:Collagen