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

Connell, FC; Gordon, K; Brice, G; Keeley, V; Jeffery, S; Mortimer, PS; Mansour, S; Ostergaard, P (2013) The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings. CLINICAL GENETICS, 84 (4). 303 - 314 (12). ISSN 0009-9163 https://doi.org/10.1111/cge.12173
SGUL Authors: Jeffery, Stephen Mortimer, Peter Sydney Ostergaard, Pia Mansour, Sahar Gordon, Kristiana

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Abstract

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.

Item Type: Article
Additional Information: This is the accepted version of the following article: Connell, FC; Gordon, K; Brice, G; Keeley, V; Jeffery, S; Mortimer, PS; Mansour, S; Ostergaard, P; (2013) The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings. CLINICAL GENETICS, 84 (4). 303 - 314 (12). ISSN 0009-9163 10.1111/cge.12173 which has been published in final form at http://dx.doi.org/10.1111/cge.12173.
Keywords: FLT4/VEGFR3, FOXC2, GATA2, GJC2, KIF11, VEGFC, generalized lymphatic dysplasia, lymphoedema, phenotyping, Algorithms, Humans, Lymphedema, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, lymphoedema, generalized lymphatic dysplasia, phenotyping, LYMPHEDEMA-DISTICHIASIS SYNDROME, NONIMMUNE HYDROPS-FETALIS, ACUTE MYELOID-LEUKEMIA, GROWTH FACTOR-C, HEREDITARY LYMPHEDEMA, CONGENITAL LYMPHEDEMA, AUTOSOMAL-DOMINANT, MILROY DISEASE, INTESTINAL LYMPHANGIECTASIA, ACTIVATING MUTATIONS, Genetics & Heredity, 0604 Genetics, 1103 Clinical Sciences
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title: CLINICAL GENETICS
ISSN: 0009-9163
Related URLs:
Web of Science ID: WOS:000324297800001
URI: https://openaccess.sgul.ac.uk/id/eprint/107102
Publisher's version: https://doi.org/10.1111/cge.12173

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