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

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.

KEYWORDS::

• Lymphedema-Distichiasis Syndrome
• Frameshift mutation
• Pterigium
• Prebuberal onset
• Micrognathia

ACKNOWLEDGMENTS

Thanks to all the technicians who worked with us on this case and to the Ministry of Labour, Pubblic Health and Social Policy for support of our molecular exam.

Declaration of interest: The authors declare that no funding has been received and there is no conflict of interest.