FILS syndrome

Definition:

FILS syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunodeficiency, livedo, and short stature. It has been reported that mutations in POLE cause FILS syndrome. POLE encodes the catalytic subunit of DNA polymerase epsilon.

References:

[1]. Isabelle Thiffault, et al. A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes. BMC Med Genet. 2015 May 7;16:31. [Content Brief]

[2]. Jana Pachlopnik Schmid, et al. Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome"). J Exp Med. 2012 Dec 17;209(13):2323-30. [Content Brief]

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