A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.
OBJECTIVE
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.
Fabretto
Antonella
A
Institute of Child and Maternal Health Burlo Garofolo, Genetics, Trieste, Italy. fabretto@burlo.trieste.it
Shardlow
Alison
A
Faletra
Flavio
F
Lepore
Loredana
L
Hladnik
Uros
U
Gasparini
Paolo
P
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D005124:Eye Abnormalities / Q000235:genetics*; D005140:Eyelashes / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities; D051858:Forkhead Transcription Factors / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D008209:Lymphedema / Q000235:genetics*; D008297:Male; D013577:Syndrome
D051858:Forkhead Transcription Factors; C082078:mesenchyme fork head 1 protein