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GENATLAS PHENOTYPE

last update : 18/07/2006

Symbol	LPDD
Location	16q24.1
Name	lymphedema-distichiasis syndrome
Other name(s)	lymphedema with distichiasis
Corresponding gene	FOXC2
Main clinical features	late chilhood lymphedema,confined to lower limbs, variable severity aberrant eyelashes from a full set of extra eyelashes to a single hair, corneal irritation, conjunctivitis, photophobia and ptosis congenital heart disease, varicose veins
Genetic determination	autosomal dominant
Function/system disorder	connective tissue
	eye
Type	disease

Gene product

Name	forkhead box C2, small insertions and deletions

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
frameshift		truncated protein
insertion-deletion		truncated protein
nonsense		truncated protein
missense		haploinsufficiency	R121H, S125L, located on the DNA-recognition helix of the FHD, impairing the DNA-binding and transcriptional activation ability of the FOXC2 protein

Remark(s)

an out of frame deletion (914-921 del), two nonsense, three insertions, one insertion/deletion leading to a truncated form

Genotype/Phenotype correlations

there are three allelic disorders with phenotypic overlap: lymphedema and ptosis (OMIM 153000), yellow nail syndrome (OMIM 153300), and lymphedema hereditary II (OMIM 153200)