A Case of Lymphedema-Distichiasis Syndrome Carrying a New de novo Frameshift FOXC2 Mutation

[lymphedemapeople]

A Case of Lymphedema-Distichiasis Syndrome Carrying a New de novo
Frameshift FOXC2 Mutation

Ophthalmic Genet. 2010 Ju

Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P.

Institute of Child and Maternal Health Burlo Garofolo, Genetics,
Trieste, Italy. fabr...@burlo.trieste.it

Abstract

PURPOSE:

Lymphedema-Distichiasis (LD, OMIM 153400) is an autosomal dominant
disorder with variable expression. The mutated gene implicated is
FOXC2, which encodes for a forkhead transcription factor involved in
the development of the lymphatic and vascular system. LD is
characterized by late childhood or pubertal onset lymphedema of the
limbs and distichiasis. Other associations have been reported,
including congenital heart disease, ptosis, scoliosis.

CONCLUSIONS:

Here we describe a case of LD carrying a de novo frameshift mutation
of FOXC2 who presented a prepubertal onset of lower limbs lymphedema
and mild distichiasis associated with other anomalies such as webbing
neck and ptosis.

Full texst available at:

http://informahealthcare.com/doi/abs/10.3109/13816811003620517