CCM3 mutations are uncommon in cerebral cavernous malformations.
Cerebral cavernous malformations (CCMs) are characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. Mutations in the gene PDCD10 have been found in CCM families linked to the CCM3 locus. The authors screened this gene in 15 families that did not have a CCM1 or CCM2 mutation. Only two novel mutations were found, suggesting that mutations in this gene may only account for a small percentage of CCM familial cases.
Verlaan
D J
DJ
Faculté de Médecine, Université de Montréal, Centre de recherche du CHUM, Hôpital Notre-Dame, Montreal, Quebec, Canada.
Roussel
J
J
Laurent
S B
SB
Elger
C E
CE
Siegel
A M
AM
Rouleau
G A
GA
D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D002536:Cerebral Arteries / Q000002:abnormalities*; D002540:Cerebral Cortex / Q000098:blood supply / Q000473:pathology*; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics
D051017:Apoptosis Regulatory Proteins; D018389:Codon, Nonsense; D005819:Genetic Markers; D008565:Membrane Proteins; C495390:PDCD10 protein, human; D011518:Proto-Oncogene Proteins; D022821:RNA Splice Sites