The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

被引：112

作者：

Connell, F. C. ^{[1
]}

Gordon, K. ^{[2
]}

Brice, G. ^{[3
]}

Keeley, V. ^{[4
]}

Jeffery, S. ^{[5
]}

Mortimer, P. S. ^{[2
]}

Mansour, S. ^{[3
]}

Ostergaard, P. ^{[5
]}

机构：

[1] Guys Hosp, Guys & St Thomas NHS Fdn Trust, London SE1 9RT, England

[2] St Georges Univ London, Dept Clin Sci, London SW17 0RE, England

[3] St Georges Univ London, SW Thames Reg Genet Serv, London SW17 0RE, England

[4] Derby Hosp NHS Trust, Lymphoedema Clin, Derby DE22 3NE, England

[5] St Georges Univ London, Human Genet Res Ctr, London SW17 0RE, England

来源：

CLINICAL GENETICS | 2013年 / 84卷 / 04期

关键词：

lymphoedema; generalized lymphatic dysplasia; phenotyping; FOXC2; GATA2; GJC2; KIF11; VEGFC; FLT4; VEGFR3; GROWTH FACTOR-C; HEREDITARY LYMPHEDEMA; AUTOSOMAL-DOMINANT; CONGENITAL LYMPHEDEMA; MILROY DISEASE; INTESTINAL LYMPHANGIECTASIA; ACTIVATING MUTATIONS; HENNEKAM-SYNDROME; GATA2; MUTATIONS; FOXC2;

D O I：

10.1111/cge.12173

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Historically, primary lymphoedema was classified into just three categories depending on the age of onset of swelling; congenital, praecox and tarda. Developments in clinical phenotyping and identification of the genetic cause of some of these conditions have demonstrated that primary lymphoedema is highly heterogenous. In 2010, we introduced a new classification and diagnostic pathway as a clinical and research tool. This algorithm has been used to delineate specific primary lymphoedema phenotypes, facilitating the discovery of new causative genes. This article reviews the latest molecular findings and provides an updated version of the classification and diagnostic pathway based on this new knowledge.

引用

页码：303 / 314

页数：12

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