Mutations in FOXC2 in Humans (Lymphoedema Distichiasis Syndrome) Cause Lymphatic Dysfunction on Dependency
نویسندگان
چکیده
منابع مشابه
Mutations in FOXC2 in humans (lymphoedema distichiasis syndrome) cause lymphatic dysfunction on dependency.
BACKGROUND Human lymphoedema distichiasis syndrome (LDS) results from germline mutations in transcription factor FOXC2. In a mouse model, lack of lymphatic and venous valves is observed plus abnormal smooth muscle cell recruitment to initial lymphatics. We investigated the mechanism of lymphoedema in humans with FOXC2 mutations, specifically the effect of gravitational forces on dermal lymphati...
متن کاملClinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.
BACKGROUND Hereditary lymphoedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as lymphoedema of the limbs, with variable age of onset, and extra aberrant growth of eyelashes from the Meibomian gland (distichiasis). Other major reported complications include cardiac defects, cleft palate, and extradural cysts. Photophobia, exotropia, ptosis, congenital ectropion...
متن کاملLymphoedema-distichiasis syndrome.
To cite: Marques NS, Miranda A, Barros S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2015-213651 DESCRIPTION A 29-year-old woman with a history of renal cysts, hypertension and lymphoedema-distichiasis syndrome, was referred to ophthalmology, with bilateral blurred vision, hyperaemia and ocular pain, developed over months. The patient had no positive ...
متن کاملAnalysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.
INTRODUCTION Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative mutations have now been described in FOXC2, a forkhead transcription factor gene. Numerous clinical associations have been reported with this condition, including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal ext...
متن کاملFOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function
Dominant mutations in the FOXC2 gene cause a form of lymphedema primarily of the limbs that usually develops at or after puberty. In 90-95% of patients, lymphedema is accompanied by distichiasis. FOXC2 is a member of the forkhead/winged-helix family of transcription factors and plays essential roles in different developmental pathways and physiological processes. We previously described six unr...
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ژورنال
عنوان ژورنال: Journal of Vascular Research
سال: 2011
ISSN: 1423-0135,1018-1172
DOI: 10.1159/000323484