Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria

Michele C Kieke; Jacob Klemm; Arthur Rech Tondin; Victor Alencar; Nathan Johnson; Ashley M Driver; Thomas Lentz; Gregory J Fischer; Diane A Caporale; Luke J Drury

doi:10.1016/j.ymgmr.2019.100481

Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria

Mol Genet Metab Rep. 2019 Jun 25:20:100481. doi: 10.1016/j.ymgmr.2019.100481. eCollection 2019 Sep.

Affiliations

¹ Regions Hospital, Medical Laboratory and Pathology Services, Saint Paul, MN, USA.
² University of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USA.
³ PreventionGenetics, Marshfield, WI, USA.

Abstract

Erythropoietic protoporphyria (EPP) is an autosomal recessive deficiency in heme biosynthesis due to pathogenic variants in the ferrochelatase gene (FECH). Patients present with lifelong photosensitivity and potential liver disease. Here we report a novel FECH variant designated c.904_912+1del found in trans with the c.315-48T>C hypomorphic variant, in one family with three affected individuals. These patients presented with immediate painful cutaneous photosensitivity but no hepatic manifestations. All have elevated protoporphyrin levels consistent with a diagnosis of EPP. Genetic, biochemical, and functional assay results obtained for this family suggest that the unique variant c.904_912+1del is likely pathogenic and thus causative of EPP.

Keywords: Erythropoietic protoporphyria; Genetic disease; Hepatic porphyria.

Publication types

Case Reports