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FOXC2, FOXF1, and the 16q24.1-Region Microdeletions: Lymphatic, Vascular, Cardiac, and Other Phenotypes 

FOXC2, FOXF1, and the 16q24.1-Region Microdeletions: Lymphatic, Vascular, Cardiac, and Other Phenotypes
Chapter:
FOXC2, FOXF1, and the 16q24.1-Region Microdeletions: Lymphatic, Vascular, Cardiac, and Other Phenotypes
Author(s):

Robert P. Erickson

DOI:
10.1093/med/9780199934522.003.0116
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date: 09 March 2021

Mutations in 2 of the 3 FOX genes in the cluster at 16q24.1 cause distinctive syndromes while deletion of the region, including the third FOX and other genes, creates a third syndrome. FOXC2 mutations cause lymphedema distichiasis (LD) which is a dominantly inherited syndrome of high penetrance and extremely variable expression. Its most constant feature is distichiasis, a double row of eyelashes due to secondary eyelashes growing from the meibomian glands. Lymphedema is typically of adolescent onset but can be so severe as to cause hydrops fetalis and may not appear at all. FOXF1 mutations and deletions cause the lethal syndrome of Alveolar Capillary Dysplasia/Misalignment of Pulmonary Veins (ACD/MPV) and other abnormalities. Deletions involving both FOXC2 and FOXF1 show severe lethal birth defects including congenital heart disease. Genetic counselling for FOXC2 mutations is difficult because of the variable expressivity; treatment of LD is conservative.

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