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

来源：

CLINICAL GENETICS | 2012年 / 81卷 / 02期

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

页码：191 / 197

页数：7

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 [J].

Abrams, Matthew E. ;

Meredith, Keith S. ;

Kinnard, Paula ;

Clark, Reese H. .

PEDIATRICS, 2007, 120 (01) :84-89

[2] Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans [J].

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. .

NATURE GENETICS, 2009, 41 (12) :1272-1274

[3] Etiology of Nonimmune Hydrops Fetalis: A Systematic Review [J].

Bellini, Carlo ;

Hennekam, Raoul C. M. ;

Fulcheri, Ezio ;

Rutigliani, Mariangela ;

Morcaldi, Guido ;

Boccardo, Francesco ;

Bonioli, Eugenio .

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 [J].

Connell, Fiona ;

Kalidas, Kamini ;

Ostergaard, Pia ;

Brice, Glen ;

Homfray, Tessa ;

Roberts, Lesley ;

Bunyan, David J. ;

Mitton, Sally ;

Mansour, Sahar ;

Mortimer, Peter ;

Jeffery, Steve .

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 [J].

HENNEKAM, RCM ;

GEERDINK, RA ;

HAMEL, BCJ ;

HENNEKAM, FAM ;

KRAUS, P ;

RAMMELOO, JA ;

TILLEMANS, AAW .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (04) :593-600

[7] ccbe1 is required for embryonic lymphangiogenesis and venous sprouting [J].

Hogan, Benjamin M. ;

Bos, Frank L. ;

Bussmann, Jeroen ;

Witte, Merlijn ;

Chi, Neil C. ;

Duckers, Henricus J. ;

Schulte-Merker, Stefan .

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 [J].

Simpson, JH ;

McDevitt, H ;

Young, D ;

Cameron, AD .

FETAL DIAGNOSIS AND THERAPY, 2006, 21 (04) :380-382

[9] PRIMARY LYMPHATIC DYSPLASIA IN CHILDREN - CHYLOTHORAX, CHYLOUS ASCITES, AND GENERALIZED LYMPHATIC DYSPLASIA [J].

SMELTZER, DM ;

STICKLER, GB ;

FLEMING, RE .

EUROPEAN JOURNAL OF PEDIATRICS, 1986, 145 (04) :286-292

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