Genetic Causes of Lymphedema
For this chapter, an extensive review of the literature regarding the genes and clinical presentations associated with primary lymphedema is performed. All the signs that have been mentioned for the patients with a proven mutation are catalogued. The phenotypes are divided into two groups depending on whether lymphedema is a primary or a secondary key for diagnosis. This should help clinicians to identify more easily the best candidate gene. Yet, because of the high number of associated genes and the large phenotypic variability, a panel approach to screen all genes at once is likely the most efficient approach for diagnosis.
KeywordsLymphedema Genetic Mutation Gene Sequencing Genotype–phenotype correlation Counseling Pathophysiology Diagnostics Symptoms
- 12.Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, et al. Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene. Clin Genet. 2014. Article first published online: 16 APR 2014, DOI: 10.1111/cge.12388.Google Scholar