Blue rubber bleb nevus syndrome causes: Difference between revisions
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=== Genetic Causes === | === Genetic Causes === | ||
* [[Blue rubber bleb nevus syndrome]] is caused by a [[gene mutation]] in the short arm of [[Chromosome 9 (human)|chromosome 9]] gene. | * [[Blue rubber bleb nevus syndrome]] is caused by a [[gene mutation]] in the short arm of [[Chromosome 9 (human)|chromosome 9]] gene.<ref name="pmid12015660">{{cite journal |vauthors=Dòmini M, Aquino A, Fakhro A, Tursini S, Marino N, Di Matteo S, Lelli Chiesa P |title=Blue rubber bleb nevus syndrome and gastrointestinal haemorrhage: which treatment? |journal=Eur J Pediatr Surg |volume=12 |issue=2 |pages=129–33 |date=April 2002 |pmid=12015660 |doi=10.1055/s-2002-30172 |url=}}</ref> | ||
* According to the recent studies [[blue rubber bleb nevus syndrome]] may be caused by [[Somatic mutation|somatic mutations]] in [[TEK tyrosine kinase|TEK]], the gene encoding TIE2.<ref name="pmid27519652">{{cite journal |vauthors=Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M |title=Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations |journal=J. Invest. Dermatol. |volume=137 |issue=1 |pages=207–216 |date=January 2017 |pmid=27519652 |doi=10.1016/j.jid.2016.07.034 |url=}}</ref> | * According to the recent studies [[blue rubber bleb nevus syndrome]] may be caused by [[Somatic mutation|somatic mutations]] in [[TEK tyrosine kinase|TEK]], the gene encoding TIE2.<ref name="pmid27519652">{{cite journal |vauthors=Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M |title=Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations |journal=J. Invest. Dermatol. |volume=137 |issue=1 |pages=207–216 |date=January 2017 |pmid=27519652 |doi=10.1016/j.jid.2016.07.034 |url=}}</ref> | ||
==References== | ==References== | ||
Revision as of 15:47, 5 December 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
The exact cause of blue rubber bleb nevus syndrome has not been identified yet. But recent studies shows that blue rubber bleb nevus syndrome may be caused by gene mutations.
Causes
Genetic Causes
- Blue rubber bleb nevus syndrome is caused by a gene mutation in the short arm of chromosome 9 gene.[1]
- According to the recent studies blue rubber bleb nevus syndrome may be caused by somatic mutations in TEK, the gene encoding TIE2.[2]
References
- ↑ Dòmini M, Aquino A, Fakhro A, Tursini S, Marino N, Di Matteo S, Lelli Chiesa P (April 2002). "Blue rubber bleb nevus syndrome and gastrointestinal haemorrhage: which treatment?". Eur J Pediatr Surg. 12 (2): 129–33. doi:10.1055/s-2002-30172. PMID 12015660.
- ↑ Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M (January 2017). "Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations". J. Invest. Dermatol. 137 (1): 207–216. doi:10.1016/j.jid.2016.07.034. PMID 27519652.