PMID- 10508515
OWN - NLM
STAT- MEDLINE
DCOM- 19991019
LR  - 20171116
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 23
IP  - 2
DP  - 1999 Oct
TI  - Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous
      angiomas.
PG  - 189-93
AB  - Cavernous angiomas are vascular malformations mostly located in the central
      nervous system and characterized by enlarged capillary cavities without
      intervening brain parenchyma. Clinical symptoms include seizures, haemorrhage and
      focal neurological deficits. Cavernous angiomas prevalence is close to 0.5% in
      the general population. They may be inherited as an autosomal dominant condition 
      in as much as 50% of cases. Cerebral cavernous malformations (CCM) loci were
      previously identified on 7q, 7p and 3q (refs 4,5). A strong founder effect was
      observed in the Hispano-American population, all families being linked to CCM1 on
      7q (refs 4,7). CCM1 locus assignment was refined to a 4-cM interval bracketed by 
      D7S2410 and D7S689 (ref. 8). Here we report a physical and transcriptional map of
      this interval and that CCM1, a gene whose protein product, KRIT1, interacts with 
      RAP1A (also known as KREV1; ref. 9), a member of the RAS family of GTPases, is
      mutated in CCM1 families. Our data suggest the involvement of the RAP1A signal
      transduction pathway in vasculogenesis or angiogenesis.
FAU - Laberge-le Couteulx, S
AU  - Laberge-le Couteulx S
AD  - INSERM U25, Faculte de Medecine Necker, 156 Rue de Vaugirard, 75730 Paris Cedex
      15, France.
FAU - Jung, H H
AU  - Jung HH
FAU - Labauge, P
AU  - Labauge P
FAU - Houtteville, J P
AU  - Houtteville JP
FAU - Lescoat, C
AU  - Lescoat C
FAU - Cecillon, M
AU  - Cecillon M
FAU - Marechal, E
AU  - Marechal E
FAU - Joutel, A
AU  - Joutel A
FAU - Bach, J F
AU  - Bach JF
FAU - Tournier-Lasserve, E
AU  - Tournier-Lasserve E
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (KRIT1 Protein)
RN  - 0 (KRIT1 protein, human)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Amino Acid Sequence
MH  - Central Nervous System Neoplasms/*genetics/pathology
MH  - DNA Mutational Analysis
MH  - Family Health
MH  - Female
MH  - Hemangioma, Cavernous/*genetics/pathology
MH  - Humans
MH  - KRIT1 Protein
MH  - Male
MH  - *Microtubule-Associated Proteins
MH  - Molecular Sequence Data
MH  - Mutagenesis, Insertional
MH  - Mutation
MH  - Pedigree
MH  - Physical Chromosome Mapping
MH  - Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Proto-Oncogene Proteins/*genetics
MH  - Sequence Deletion
MH  - Sequence Homology, Amino Acid
EDAT- 1999/10/03 09:00
MHDA- 2001/03/23 10:01
CRDT- 1999/10/03 09:00
PHST- 1999/10/03 09:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/10/03 09:00 [entrez]
AID - 10.1038/13815 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Oct;23(2):189-93. doi: 10.1038/13815.