Abstract

We studied the scientific literature and disease guidelines to summarize the clinical utility of genetic testing for lymphedema distichiasis (LD) syndrome. LD is inherited in an autosomal dominant manner, and has unknown prevalence. It is caused by variations in the FOXC2 gene. Clinical diagnosis involves clinical examination, targeted at identifying primary lymphedema (chronic swelling of the extremities) and distichiasis (double row of eyelashes). The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Details

Title
Genetic testing for lymphedema-distichiasis syndrome
Author
Rakhmanov, Yeltay 1 ; Maltese, Paolo Enrico 1 ; Paolacci, Stefano 2 ; Marinelli, Carla 1 ; Bertelli, Matteo 3 

 MAGI Euregio, Bolzano, Italy 
 MAGI’s Lab, Rovereto, Italy 
 MAGI Euregio, Bolzano, Italy; MAGI’s Lab, Rovereto, Italy 
Pages
13-15
Publication year
2018
Publication date
2018
Publisher
De Gruyter Poland
e-ISSN
2564615X
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3156324727
Copyright
© 2018. This work is published under http://creativecommons.org/licenses/by-nc-nd/3.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.