NOVEL FOXC2 MISSENSE MUTATION IDENTIFIED IN PATIENT WITH LYMPHEDEMA-DISTICHIASIS SYNDROME AND REVIEW

Abstract

Lymphedema-distichiasis (OMIM 153400)is a dominantly inherited disorder typicallypresenting with lymphedema at puberty anddistichiasis at birth. The condition has beendecisively linked to mutations in the forkheadtranscription factor FOXC2 which have beenprimarily frameshift mutations truncatingthe protein. We report here a novel missensemutation along with a literature reviewsummarizing reported mutations.