CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis

被引:14
作者
Connell, F. C. [2 ]
Kalidas, K.
Ostergaard, P.
Brice, G. [1 ]
Murday, V. [3 ]
Mortimer, P. S. [4 ]
Jeffrey, I.
Jeffery, S.
Mansour, Sahar [1 ]
机构
[1] St Georges Univ London, SW Thames Reg Genet Serv, London SW17 0RE, England
[2] Guys & St Thomas NHS Fdn Trust, Dept Clin Genet, London, England
[3] Yorkhill Hosp, Ferguson Smith Ctr Clin Genet, Glasgow, Lanark, Scotland
[4] St Georges Univ London, Dept Cardiac & Vasc Sci Dermatol, London, England
关键词
D O I
10.1111/j.1399-0004.2011.01731.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:191 / 197
页数:7
相关论文
共 9 条
  • [1] Hydrops fetalis: A retrospective review of cases reported to a large national database and identification of risk factors associated with death
    Abrams, Matthew E.
    Meredith, Keith S.
    Kinnard, Paula
    Clark, Reese H.
    [J]. PEDIATRICS, 2007, 120 (01) : 84 - 89
  • [2] Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
    Alders, Marielle
    Hogan, Benjamin M.
    Gjini, Evisa
    Salehi, Faranak
    Al-Gazali, Lihadh
    Hennekam, Eric A.
    Holmberg, Eva E.
    Mannens, Marcel M. A. M.
    Mulder, Margot F.
    Offerhaus, G. Johan A.
    Prescott, Trine E.
    Schroor, Eelco J.
    Verheij, Joke B. G. M.
    Witte, Merlijn
    Zwijnenburg, Petra J.
    Vikkula, Mikka
    Schulte-Merker, Stefan
    Hennekam, Raoul C.
    [J]. NATURE GENETICS, 2009, 41 (12) : 1272 - 1274
  • [3] Etiology of Nonimmune Hydrops Fetalis: A Systematic Review
    Bellini, Carlo
    Hennekam, Raoul C. M.
    Fulcheri, Ezio
    Rutigliani, Mariangela
    Morcaldi, Guido
    Boccardo, Francesco
    Bonioli, Eugenio
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (05) : 844 - 851
  • [4] Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia
    Connell, Fiona
    Kalidas, Kamini
    Ostergaard, Pia
    Brice, Glen
    Homfray, Tessa
    Roberts, Lesley
    Bunyan, David J.
    Mitton, Sally
    Mansour, Sahar
    Mortimer, Peter
    Jeffery, Steve
    [J]. HUMAN GENETICS, 2010, 127 (02) : 231 - 241
  • [5] Firth H., 2005, Oxford desk reference: clinical genetics
  • [6] AUTOSOMAL RECESSIVE INTESTINAL LYMPHANGIECTASIA AND LYMPHEDEMA, WITH FACIAL ANOMALIES AND MENTAL-RETARDATION
    HENNEKAM, RCM
    GEERDINK, RA
    HAMEL, BCJ
    HENNEKAM, FAM
    KRAUS, P
    RAMMELOO, JA
    TILLEMANS, AAW
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (04): : 593 - 600
  • [7] ccbe1 is required for embryonic lymphangiogenesis and venous sprouting
    Hogan, Benjamin M.
    Bos, Frank L.
    Bussmann, Jeroen
    Witte, Merlijn
    Chi, Neil C.
    Duckers, Henricus J.
    Schulte-Merker, Stefan
    [J]. NATURE GENETICS, 2009, 41 (04) : 396 - 398
  • [8] Severity of non-immune hydrops fetalis at birth continues to predict survival despite advances in perinatal care
    Simpson, JH
    McDevitt, H
    Young, D
    Cameron, AD
    [J]. FETAL DIAGNOSIS AND THERAPY, 2006, 21 (04) : 380 - 382
  • [9] PRIMARY LYMPHATIC DYSPLASIA IN CHILDREN - CHYLOTHORAX, CHYLOUS ASCITES, AND GENERALIZED LYMPHATIC DYSPLASIA
    SMELTZER, DM
    STICKLER, GB
    FLEMING, RE
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1986, 145 (04) : 286 - 292