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The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings
Author(s) -
Connell FC,
Gordon K,
Brice G,
Keeley V,
Jeffery S,
Mortimer PS,
Mansour S,
Ostergaard P
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12173
Subject(s) - primary (astronomy) , identification (biology) , computational biology , phenotype , bioinformatics , medicine , biology , genetics , gene , botany , physics , astronomy
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.