RASA-1 somatic "second hit" mutation in capillary malformation-arteriovenous malformation

被引：10
作者：
Cai, Ren [1 ,2 ]
Liu, Fatao [3 ,4 ]
Liu, Yun [5 ,6 ]
Chen, Hui [1 ,2 ]
Lin, Xiaoxi [1 ,2 ]
机构：
[1] Shanghai Jiao Tong Univ, Sch Med, Shanghai Peoples Hosp 9, Dept Plast & Reconstruct Surg, 639 Zhi Zao Ju Rd, Shanghai 200011, Peoples R China
[2] Shanghai Jiao Tong Univ, Sch Med, Shanghai Peoples Hosp 9, Dept Laser & Aesthet Med, Shanghai, Peoples R China
[3] Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Gen Surg, Shanghai, Peoples R China
[4] Shanghai Jiao Tong Univ, Sch Med, Inst Biliary Tract Dis, Shanghai, Peoples R China
[5] Fudan Univ, Inst Biomed Sci, 138 Yixueyuan Rd, Shanghai 200032, Peoples R China
[6] Shanghai Jiao Tong Univ, Bio X Inst, Minist Educ, Key Lab Genet Dev & Neuropsychiat Disorders, Shanghai, Peoples R China
来源：
JOURNAL OF DERMATOLOGY | 2018年 / 45卷 / 12期
关键词：
arteriovenous fistula; capillary malformation-arteriovenous malformation; lymphatic malformation; RASA-1 somatic mutation; second hit;
D O I：
10.1111/1346-8138.14676
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：1478 / 1480
页数：3
相关论文
共 6 条
  • [1] Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations
    Eerola, I
    Boon, LM
    Mulliken, JB
    Burrows, PE
    Dompmartin, A
    Watanabe, S
    Vanwijck, R
    Vikkula, M
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (06) : 1240 - 1249
  • [2] RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations
    Hershkovitz, D.
    Bercovich, D.
    Sprecher, E.
    Lapidot, M.
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (05) : 1035 - 1040
  • [3] A novel mutation in RASA1 causes capillary malformation and limb enlargement
    Hershkovitz, Dov
    Bergman, Reuven
    Sprecher, Eli
    [J]. ARCHIVES OF DERMATOLOGICAL RESEARCH, 2008, 300 (07) : 385 - 388
  • [4] Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth
    Revencu, N.
    Boon, L. M.
    Dompmartin, A.
    Rieu, P.
    Busch, W. L.
    Dubois, J.
    Forzano, F.
    van Hagen, J. M.
    Halbach, S.
    Kuechler, A.
    Lachmeijer, A. M. A.
    Lahde, J.
    Russell, L.
    Simola, K. O. J.
    Mulliken, J. B.
    Vikkula, M.
    [J]. MOLECULAR SYNDROMOLOGY, 2013, 4 (04) : 173 - 178
  • [5] Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
    Revencu, Nicole
    Boon, Laurence M.
    Mulliken, John B.
    Eniolras, Odile
    Cordisco, Maria Rosa
    Burrows, Patricia E.
    Clapuyt, Philippe
    Hammer, Frank
    Dubois, Josee
    Baselga, Eulalia
    Brancati, Francesco
    Carder, Robin
    Quintal, Jose Miguel Ceballos
    Dallapiccola, Bruno
    Fischer, Gayle
    Frieden, Ilona J.
    Garzon, Maria
    Harper, John
    Johnson-Patel, Jennifer
    Labreze, Christine
    Martorell, Loreto
    Paltiel, Harriet J.
    Pohl, Annette
    Prendiville, Julie
    Quere, Isabelle
    Siegel, Dawn H.
    Valente, Enza Maria
    Van Hagen, Annet
    Van Hest, Liselot
    Vaux, Keith K.
    Vicente, Asuncion
    Weibel, Lisa
    Chitayat, David
    Vikkulal, Miikka
    [J]. HUMAN MUTATION, 2008, 29 (07) : 959 - 965
  • [6] RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
    Revencu, Nicole
    Boon, Laurence M.
    Mendola, Antonella
    Cordisco, Maria Rosa
    Dubois, Josee
    Clapuyt, Philippe
    Hammer, Frank
    Amor, David J.
    Irvine, Alan D.
    Baselga, Eulalia
    Dompmartin, Anne
    Syed, Samira
    Martin-Santiago, Ana
    Ades, Lesley
    Collins, Felicity
    Smith, Janine
    Sandaradura, Sarah
    Barrio, Victoria R.
    Burrows, Patricia E.
    Blei, Francine
    Cozzolino, Mariarosaria
    Brunetti-Pierri, Nicola
    Vicente, Asuncion
    Abramowicz, Marc
    Desir, Julie
    Vilain, Catheline
    Chung, Wendy K.
    Wilson, Ashley
    Gardiner, Carol A.
    Dwight, Yim
    Lord, David J. E.
    Fishman, Leona
    Cytrynbaum, Cheryl
    Chamlin, Sarah
    Ghali, Fred
    Gilaberte, Yolanda
    Joss, Shelagh
    Boente, Maria Del C.
    Leaute-Labreze, Christine
    Delrue, Marie-Ange
    Bayliss, Susan
    Martorell, Loreto
    Gonzalez-Ensenat, Maria-Antonia
    Mazereeuw-Hautier, Juliette
    O'Donnell, Brid
    Bessis, Didier
    Pyeritz, Reed E.
    Salhi, Aicha
    Tan, Oon T.
    Wargon, Orli
    [J]. HUMAN MUTATION, 2013, 34 (12) : 1632 - 1641
1