PMID- 10364524
OWN - NLM
STAT- MEDLINE
DCOM- 19990805
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 1
DP  - 1999 Jul
TI  - A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to
      chromosome 1p21-22.
PG  - 125-33
AB  - Venous malformations (VMs) are localized defects of vascular morphogenesis. They 
      can occur in every organ system, most commonly in skin and muscle. They can cause
      pain and bleeding, and in some critical locations they can be life threatening.
      Usually venous anomalies occur sporadically, but families with dominant
      inheritance have been identified. Using linkage analysis, we have established in 
      earlier reports that some families with inherited VMs show linkage to chromosome 
      9p21; the mutation causes ligand-independent activation of an endothelial
      cell-specific receptor tyrosine kinase, TIE-2. Here we show that VMs with glomus 
      cells (known as "glomangiomas"), inherited as an autosomal dominant trait in five
      families, are not linked to 9p21 but, instead, link to a new locus, on 1p21-p22, 
      called "VMGLOM" (LOD score 12.70 at recombination fraction.00). We exclude three 
      known positional candidate genes, DR1 (depressor of transcription 1), TGFBR3
      (transforming growth factor-beta receptor, type 3), and TFA (tissue factor). We
      hypothesize that cutaneous venous anomalies (i.e., glomangiomas) are caused by
      mutations in a novel gene that may act to regulate angiogenesis, in concert with 
      the TIE-2 signaling pathway.
FAU - Boon, L M
AU  - Boon LM
AD  - Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular
      Pathology and Universite Catholique de Louvain, Brussels, Belgium.
FAU - Brouillard, P
AU  - Brouillard P
FAU - Irrthum, A
AU  - Irrthum A
FAU - Karttunen, L
AU  - Karttunen L
FAU - Warman, M L
AU  - Warman ML
FAU - Rudolph, R
AU  - Rudolph R
FAU - Mulliken, J B
AU  - Mulliken JB
FAU - Olsen, B R
AU  - Olsen BR
FAU - Vikkula, M
AU  - Vikkula M
LA  - eng
GR  - AR36820/AR/NIAMS NIH HHS/United States
GR  - HL33014/HL/NHLBI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Genetic Markers)
SB  - IM
MH  - *Chromosomes, Human, Pair 1
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Glomus Tumor/*genetics/pathology
MH  - Humans
MH  - Lod Score
MH  - Models, Genetic
MH  - Pedigree
MH  - Skin Neoplasms/*genetics/pathology
MH  - Veins/anatomy & histology/physiology
PMC - PMC1378082
EDAT- 1999/06/12 10:00
MHDA- 2000/03/21 09:00
CRDT- 1999/06/12 10:00
PHST- 1999/06/12 10:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/06/12 10:00 [entrez]
AID - S0002-9297(07)63735-5 [pii]
AID - 10.1086/302450 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Jul;65(1):125-33. doi: 10.1086/302450.