Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Identifieur interne : 001380 ( PubMed/Corpus ); précédent : 001379; suivant : 001381Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Auteurs : Julie Soblet ; Jaakko Kangas ; Marjut N Tynki ; Antonella Mendola ; Raphaël Helaers ; Melanie Uebelhoer ; Mika Kaakinen ; Maria Cordisco ; Anne Dompmartin ; Odile Enjolras ; Simon Holden ; Alan D. Irvine ; Loshan Kangesu ; Christine Léauté-Labrèze ; Agustina Lanoel ; Zerina Lokmic ; Saskia Maas ; Maeve A. Mcaleer ; Anthony Penington ; Paul Rieu ; Samira Syed ; Carine Van Der Vleuten ; Rosemarie Watson ; Steven J. Fishman ; John B. Mulliken ; Lauri Eklund ; Nisha Limaye ; Laurence M. Boon ; Miikka VikkulaSource :
- The Journal of investigative dermatology [ 1523-1747 ] ; 2017.
English descriptors
- KwdEn :
- Belgium, Cohort Studies, Female, Gastrointestinal Neoplasms (diagnosis), Gastrointestinal Neoplasms (genetics), Genetic Predisposition to Disease (epidemiology), Humans, Incidence, Male, Mutation, Nevus, Blue (diagnosis), Nevus, Blue (genetics), Rare Diseases, Receptor, TIE-2 (genetics), Skin Neoplasms (diagnosis), Skin Neoplasms (genetics), Vascular Malformations (diagnosis), Vascular Malformations (genetics).
- MESH :
- chemical , genetics : Receptor, TIE-2.
- diagnosis : Gastrointestinal Neoplasms, Nevus, Blue, Skin Neoplasms, Vascular Malformations.
- epidemiology : Genetic Predisposition to Disease.
- genetics : Gastrointestinal Neoplasms, Nevus, Blue, Skin Neoplasms, Vascular Malformations.
- Belgium, Cohort Studies, Female, Humans, Incidence, Male, Mutation, Rare Diseases.
Abstract
Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with sporadically occurring multifocal venous malformations. In contrast to common unifocal venous malformation, which is most often caused by the somatic L914F TIE2 mutation, multifocal forms are predominantly caused by double (cis) mutations, that is, two somatic mutations on the same allele of the gene. Mutations are identical in all lesions from a given individual. T1105N-T1106P is recurrent in blue rubber bleb nevus, whereas Y897C-R915C is recurrent in sporadically occurring multifocal venous malformation: both cause ligand-independent activation of TIE2, and increase survival, invasion, and colony formation when expressed in human umbilical vein endothelial cells.
DOI: 10.1016/j.jid.2016.07.034
PubMed: 27519652
Links to Exploration step
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.</title><author><name sortKey="Soblet, Julie" sort="Soblet, Julie" uniqKey="Soblet J" first="Julie" last="Soblet">Julie Soblet</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Kangas, Jaakko" sort="Kangas, Jaakko" uniqKey="Kangas J" first="Jaakko" last="Kangas">Jaakko Kangas</name><affiliation><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="N Tynki, Marjut" sort="N Tynki, Marjut" uniqKey="N Tynki M" first="Marjut" last="N Tynki">Marjut N Tynki</name><affiliation><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Helaers, Raphael" sort="Helaers, Raphael" uniqKey="Helaers R" first="Raphaël" last="Helaers">Raphaël Helaers</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Uebelhoer, Melanie" sort="Uebelhoer, Melanie" uniqKey="Uebelhoer M" first="Melanie" last="Uebelhoer">Melanie Uebelhoer</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Kaakinen, Mika" sort="Kaakinen, Mika" uniqKey="Kaakinen M" first="Mika" last="Kaakinen">Mika Kaakinen</name><affiliation><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Cordisco, Maria" sort="Cordisco, Maria" uniqKey="Cordisco M" first="Maria" last="Cordisco">Maria Cordisco</name><affiliation><nlm:affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</nlm:affiliation></affiliation></author><author><name sortKey="Dompmartin, Anne" sort="Dompmartin, Anne" uniqKey="Dompmartin A" first="Anne" last="Dompmartin">Anne Dompmartin</name><affiliation><nlm:affiliation>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Enjolras, Odile" sort="Enjolras, Odile" uniqKey="Enjolras O" first="Odile" last="Enjolras">Odile Enjolras</name><affiliation><nlm:affiliation>Pediatric Vascular Clinic, Department of Maxillofacial and Plastic Surgery, Hôpital d'Enfants Armand Trousseau, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Holden, Simon" sort="Holden, Simon" uniqKey="Holden S" first="Simon" last="Holden">Simon Holden</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D" last="Irvine">Alan D. Irvine</name><affiliation><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation></affiliation></author><author><name sortKey="Kangesu, Loshan" sort="Kangesu, Loshan" uniqKey="Kangesu L" first="Loshan" last="Kangesu">Loshan Kangesu</name><affiliation><nlm:affiliation>Great Ormond Street Hospital, London and St Andrews Centre for Plastic Surgery, Broomfield Hospital, Chelmsford, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Leaute Labreze, Christine" sort="Leaute Labreze, Christine" uniqKey="Leaute Labreze C" first="Christine" last="Léauté-Labrèze">Christine Léauté-Labrèze</name><affiliation><nlm:affiliation>Dermatology Department, Hôpital Pellegrin Enfants, Bordeaux, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lanoel, Agustina" sort="Lanoel, Agustina" uniqKey="Lanoel A" first="Agustina" last="Lanoel">Agustina Lanoel</name><affiliation><nlm:affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</nlm:affiliation></affiliation></author><author><name sortKey="Lokmic, Zerina" sort="Lokmic, Zerina" uniqKey="Lokmic Z" first="Zerina" last="Lokmic">Zerina Lokmic</name><affiliation><nlm:affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Maas, Saskia" sort="Maas, Saskia" uniqKey="Maas S" first="Saskia" last="Maas">Saskia Maas</name><affiliation><nlm:affiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Mcaleer, Maeve A" sort="Mcaleer, Maeve A" uniqKey="Mcaleer M" first="Maeve A" last="Mcaleer">Maeve A. Mcaleer</name><affiliation><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation></affiliation></author><author><name sortKey="Penington, Anthony" sort="Penington, Anthony" uniqKey="Penington A" first="Anthony" last="Penington">Anthony Penington</name><affiliation><nlm:affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Rieu, Paul" sort="Rieu, Paul" uniqKey="Rieu P" first="Paul" last="Rieu">Paul Rieu</name><affiliation><nlm:affiliation>Kinderchirurgie, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Syed, Samira" sort="Syed, Samira" uniqKey="Syed S" first="Samira" last="Syed">Samira Syed</name><affiliation><nlm:affiliation>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Van Der Vleuten, Carine" sort="Van Der Vleuten, Carine" uniqKey="Van Der Vleuten C" first="Carine" last="Van Der Vleuten">Carine Van Der Vleuten</name><affiliation><nlm:affiliation>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Watson, Rosemarie" sort="Watson, Rosemarie" uniqKey="Watson R" first="Rosemarie" last="Watson">Rosemarie Watson</name><affiliation><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation></affiliation></author><author><name sortKey="Fishman, Steven J" sort="Fishman, Steven J" uniqKey="Fishman S" first="Steven J" last="Fishman">Steven J. Fishman</name><affiliation><nlm:affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Mulliken, John B" sort="Mulliken, John B" uniqKey="Mulliken J" first="John B" last="Mulliken">John B. Mulliken</name><affiliation><nlm:affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Eklund, Lauri" sort="Eklund, Lauri" uniqKey="Eklund L" first="Lauri" last="Eklund">Lauri Eklund</name><affiliation><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Limaye, Nisha" sort="Limaye, Nisha" uniqKey="Limaye N" first="Nisha" last="Limaye">Nisha Limaye</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M" last="Boon">Laurence M. Boon</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium. Electronic address: miikka.vikkula@uclouvain.be.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:27519652</idno><idno type="pmid">27519652</idno><idno type="doi">10.1016/j.jid.2016.07.034</idno><idno type="wicri:Area/PubMed/Corpus">001380</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001380</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.</title><author><name sortKey="Soblet, Julie" sort="Soblet, Julie" uniqKey="Soblet J" first="Julie" last="Soblet">Julie Soblet</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Kangas, Jaakko" sort="Kangas, Jaakko" uniqKey="Kangas J" first="Jaakko" last="Kangas">Jaakko Kangas</name><affiliation><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="N Tynki, Marjut" sort="N Tynki, Marjut" uniqKey="N Tynki M" first="Marjut" last="N Tynki">Marjut N Tynki</name><affiliation><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Helaers, Raphael" sort="Helaers, Raphael" uniqKey="Helaers R" first="Raphaël" last="Helaers">Raphaël Helaers</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Uebelhoer, Melanie" sort="Uebelhoer, Melanie" uniqKey="Uebelhoer M" first="Melanie" last="Uebelhoer">Melanie Uebelhoer</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Kaakinen, Mika" sort="Kaakinen, Mika" uniqKey="Kaakinen M" first="Mika" last="Kaakinen">Mika Kaakinen</name><affiliation><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Cordisco, Maria" sort="Cordisco, Maria" uniqKey="Cordisco M" first="Maria" last="Cordisco">Maria Cordisco</name><affiliation><nlm:affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</nlm:affiliation></affiliation></author><author><name sortKey="Dompmartin, Anne" sort="Dompmartin, Anne" uniqKey="Dompmartin A" first="Anne" last="Dompmartin">Anne Dompmartin</name><affiliation><nlm:affiliation>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen, France.</nlm:affiliation></affiliation></author><author><name sortKey="Enjolras, Odile" sort="Enjolras, Odile" uniqKey="Enjolras O" first="Odile" last="Enjolras">Odile Enjolras</name><affiliation><nlm:affiliation>Pediatric Vascular Clinic, Department of Maxillofacial and Plastic Surgery, Hôpital d'Enfants Armand Trousseau, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Holden, Simon" sort="Holden, Simon" uniqKey="Holden S" first="Simon" last="Holden">Simon Holden</name><affiliation><nlm:affiliation>Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D" last="Irvine">Alan D. Irvine</name><affiliation><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation></affiliation></author><author><name sortKey="Kangesu, Loshan" sort="Kangesu, Loshan" uniqKey="Kangesu L" first="Loshan" last="Kangesu">Loshan Kangesu</name><affiliation><nlm:affiliation>Great Ormond Street Hospital, London and St Andrews Centre for Plastic Surgery, Broomfield Hospital, Chelmsford, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Leaute Labreze, Christine" sort="Leaute Labreze, Christine" uniqKey="Leaute Labreze C" first="Christine" last="Léauté-Labrèze">Christine Léauté-Labrèze</name><affiliation><nlm:affiliation>Dermatology Department, Hôpital Pellegrin Enfants, Bordeaux, France.</nlm:affiliation></affiliation></author><author><name sortKey="Lanoel, Agustina" sort="Lanoel, Agustina" uniqKey="Lanoel A" first="Agustina" last="Lanoel">Agustina Lanoel</name><affiliation><nlm:affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</nlm:affiliation></affiliation></author><author><name sortKey="Lokmic, Zerina" sort="Lokmic, Zerina" uniqKey="Lokmic Z" first="Zerina" last="Lokmic">Zerina Lokmic</name><affiliation><nlm:affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Maas, Saskia" sort="Maas, Saskia" uniqKey="Maas S" first="Saskia" last="Maas">Saskia Maas</name><affiliation><nlm:affiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Mcaleer, Maeve A" sort="Mcaleer, Maeve A" uniqKey="Mcaleer M" first="Maeve A" last="Mcaleer">Maeve A. Mcaleer</name><affiliation><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation></affiliation></author><author><name sortKey="Penington, Anthony" sort="Penington, Anthony" uniqKey="Penington A" first="Anthony" last="Penington">Anthony Penington</name><affiliation><nlm:affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Rieu, Paul" sort="Rieu, Paul" uniqKey="Rieu P" first="Paul" last="Rieu">Paul Rieu</name><affiliation><nlm:affiliation>Kinderchirurgie, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Syed, Samira" sort="Syed, Samira" uniqKey="Syed S" first="Samira" last="Syed">Samira Syed</name><affiliation><nlm:affiliation>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Van Der Vleuten, Carine" sort="Van Der Vleuten, Carine" uniqKey="Van Der Vleuten C" first="Carine" last="Van Der Vleuten">Carine Van Der Vleuten</name><affiliation><nlm:affiliation>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Watson, Rosemarie" sort="Watson, Rosemarie" uniqKey="Watson R" first="Rosemarie" last="Watson">Rosemarie Watson</name><affiliation><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation></affiliation></author><author><name sortKey="Fishman, Steven J" sort="Fishman, Steven J" uniqKey="Fishman S" first="Steven J" last="Fishman">Steven J. Fishman</name><affiliation><nlm:affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Mulliken, John B" sort="Mulliken, John B" uniqKey="Mulliken J" first="John B" last="Mulliken">John B. Mulliken</name><affiliation><nlm:affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Eklund, Lauri" sort="Eklund, Lauri" uniqKey="Eklund L" first="Lauri" last="Eklund">Lauri Eklund</name><affiliation><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Limaye, Nisha" sort="Limaye, Nisha" uniqKey="Limaye N" first="Nisha" last="Limaye">Nisha Limaye</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M" last="Boon">Laurence M. Boon</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium. Electronic address: miikka.vikkula@uclouvain.be.</nlm:affiliation></affiliation></author></analytic><series><title level="j">The Journal of investigative dermatology</title><idno type="eISSN">1523-1747</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Belgium</term><term>Cohort Studies</term><term>Female</term><term>Gastrointestinal Neoplasms (diagnosis)</term><term>Gastrointestinal Neoplasms (genetics)</term><term>Genetic Predisposition to Disease (epidemiology)</term><term>Humans</term><term>Incidence</term><term>Male</term><term>Mutation</term><term>Nevus, Blue (diagnosis)</term><term>Nevus, Blue (genetics)</term><term>Rare Diseases</term><term>Receptor, TIE-2 (genetics)</term><term>Skin Neoplasms (diagnosis)</term><term>Skin Neoplasms (genetics)</term><term>Vascular Malformations (diagnosis)</term><term>Vascular Malformations (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptor, TIE-2</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Gastrointestinal Neoplasms</term><term>Nevus, Blue</term><term>Skin Neoplasms</term><term>Vascular Malformations</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Genetic Predisposition to Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gastrointestinal Neoplasms</term><term>Nevus, Blue</term><term>Skin Neoplasms</term><term>Vascular Malformations</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Belgium</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Incidence</term><term>Male</term><term>Mutation</term><term>Rare Diseases</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with sporadically occurring multifocal venous malformations. In contrast to common unifocal venous malformation, which is most often caused by the somatic L914F TIE2 mutation, multifocal forms are predominantly caused by double (cis) mutations, that is, two somatic mutations on the same allele of the gene. Mutations are identical in all lesions from a given individual. T1105N-T1106P is recurrent in blue rubber bleb nevus, whereas Y897C-R915C is recurrent in sporadically occurring multifocal venous malformation: both cause ligand-independent activation of TIE2, and increase survival, invasion, and colony formation when expressed in human umbilical vein endothelial cells.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27519652</PMID><DateCreated><Year>2016</Year><Month>08</Month><Day>13</Day></DateCreated><DateCompleted><Year>2017</Year><Month>07</Month><Day>19</Day></DateCompleted><DateRevised><Year>2017</Year><Month>07</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1523-1747</ISSN><JournalIssue CitedMedium="Internet"><Volume>137</Volume><Issue>1</Issue><PubDate><Year>2017</Year><Month>Jan</Month></PubDate></JournalIssue><Title>The Journal of investigative dermatology</Title><ISOAbbreviation>J. Invest. Dermatol.</ISOAbbreviation></Journal><ArticleTitle>Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.</ArticleTitle><Pagination><MedlinePgn>207-216</MedlinePgn></Pagination><ELocationID EIdType="pii" ValidYN="Y">S0022-202X(16)32252-7</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.jid.2016.07.034</ELocationID><Abstract><AbstractText>Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with sporadically occurring multifocal venous malformations. In contrast to common unifocal venous malformation, which is most often caused by the somatic L914F TIE2 mutation, multifocal forms are predominantly caused by double (cis) mutations, that is, two somatic mutations on the same allele of the gene. Mutations are identical in all lesions from a given individual. T1105N-T1106P is recurrent in blue rubber bleb nevus, whereas Y897C-R915C is recurrent in sporadically occurring multifocal venous malformation: both cause ligand-independent activation of TIE2, and increase survival, invasion, and colony formation when expressed in human umbilical vein endothelial cells.</AbstractText><CopyrightInformation>Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Soblet</LastName><ForeName>Julie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kangas</LastName><ForeName>Jaakko</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nätynki</LastName><ForeName>Marjut</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mendola</LastName><ForeName>Antonella</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Helaers</LastName><ForeName>Raphaël</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Uebelhoer</LastName><ForeName>Melanie</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kaakinen</LastName><ForeName>Mika</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cordisco</LastName><ForeName>Maria</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dompmartin</LastName><ForeName>Anne</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Enjolras</LastName><ForeName>Odile</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Pediatric Vascular Clinic, Department of Maxillofacial and Plastic Surgery, Hôpital d'Enfants Armand Trousseau, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Holden</LastName><ForeName>Simon</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Irvine</LastName><ForeName>Alan D</ForeName><Initials>AD</Initials><AffiliationInfo><Affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kangesu</LastName><ForeName>Loshan</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Great Ormond Street Hospital, London and St Andrews Centre for Plastic Surgery, Broomfield Hospital, Chelmsford, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Léauté-Labrèze</LastName><ForeName>Christine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Dermatology Department, Hôpital Pellegrin Enfants, Bordeaux, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lanoel</LastName><ForeName>Agustina</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lokmic</LastName><ForeName>Zerina</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Maas</LastName><ForeName>Saskia</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McAleer</LastName><ForeName>Maeve A</ForeName><Initials>MA</Initials><AffiliationInfo><Affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Penington</LastName><ForeName>Anthony</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rieu</LastName><ForeName>Paul</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Kinderchirurgie, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Syed</LastName><ForeName>Samira</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van der Vleuten</LastName><ForeName>Carine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Watson</LastName><ForeName>Rosemarie</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fishman</LastName><ForeName>Steven J</ForeName><Initials>SJ</Initials><AffiliationInfo><Affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mulliken</LastName><ForeName>John B</ForeName><Initials>JB</Initials><AffiliationInfo><Affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Eklund</LastName><ForeName>Lauri</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Limaye</LastName><ForeName>Nisha</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boon</LastName><ForeName>Laurence M</ForeName><Initials>LM</Initials><AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vikkula</LastName><ForeName>Miikka</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium. Electronic address: miikka.vikkula@uclouvain.be.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>08</Month><Day>09</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>J Invest Dermatol</MedlineTA><NlmUniqueID>0426720</NlmUniqueID><ISSNLinking>0022-202X</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber><NameOfSubstance UI="D042787">Receptor, TIE-2</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C536240">Blue rubber bleb nevus syndrome</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D001530" MajorTopicYN="N">Belgium</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005770" MajorTopicYN="N">Gastrointestinal Neoplasms</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="Y">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015994" MajorTopicYN="N">Incidence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018329" MajorTopicYN="N">Nevus, Blue</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D035583" MajorTopicYN="N">Rare Diseases</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D042787" MajorTopicYN="N">Receptor, TIE-2</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012878" MajorTopicYN="N">Skin Neoplasms</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D054079" MajorTopicYN="N">Vascular Malformations</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>04</Month><Day>29</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>07</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>07</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>8</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>7</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>8</Month><Day>14</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27519652</ArticleId><ArticleId IdType="pii">S0022-202X(16)32252-7</ArticleId><ArticleId IdType="doi">10.1016/j.jid.2016.07.034</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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