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
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 [J].
Eerola, I ;
Boon, LM ;
Mulliken, JB ;
Burrows, PE ;
Dompmartin, A ;
Watanabe, S ;
Vanwijck, R ;
Vikkula, M .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (06) :1240-1249
[2]   RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations [J].
Hershkovitz, D. ;
Bercovich, D. ;
Sprecher, E. ;
Lapidot, M. .
BRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (05) :1035-1040
[3]   A novel mutation in RASA1 causes capillary malformation and limb enlargement [J].
Hershkovitz, Dov ;
Bergman, Reuven ;
Sprecher, Eli .
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 [J].
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. .
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 [J].
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 .
HUMAN MUTATION, 2008, 29 (07) :959-965
[6]   RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation [J].
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 .
HUMAN MUTATION, 2013, 34 (12) :1632-1641