Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria
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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-09-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426919300679 |
| _version_ | 1819210817132822528 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Michele C. Kieke |
| collection | DOAJ |
| description | 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, Hepatic porphyria, Genetic disease |
| first_indexed | 2024-12-23T06:17:12Z |
| format | Article |
| id | doaj.art-79ecfc638cfd4e46a328e2fea77d5df4 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-23T06:17:12Z |
| publishDate | 2019-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-79ecfc638cfd4e46a328e2fea77d5df42022-12-21T17:57:15ZengElsevierMolecular Genetics and Metabolism Reports2214-42692019-09-0120Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyriaMichele C. Kieke0Jacob Klemm1Arthur Rech Tondin2Victor Alencar3Nathan Johnson4Ashley M. Driver5Thomas Lentz6Gregory J. Fischer7Diane A. Caporale8Luke J. Drury9Regions Hospital, Medical Laboratory and Pathology Services, Saint Paul, MN, USA; Corresponding author at: Regions Hospital, 640 Jackson Street, Mail 11103E, Saint Paul, MN, USA.University of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USAUniversity of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USAUniversity of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USAPreventionGenetics, Marshfield, WI, USAUniversity of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USAUniversity of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USAPreventionGenetics, Marshfield, WI, USAUniversity of Wisconsin Stevens Point, Department of Biology, Stevens Point, WI, USAPreventionGenetics, Marshfield, WI, USAErythropoietic 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, Hepatic porphyria, Genetic diseasehttp://www.sciencedirect.com/science/article/pii/S2214426919300679 |
| spellingShingle | 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 Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria Molecular Genetics and Metabolism Reports |
| title | Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria |
| title_full | Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria |
| title_fullStr | Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria |
| title_full_unstemmed | Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria |
| title_short | Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria |
| title_sort | characterization of a novel pathogenic variant in the fech gene associated with erythropoietic protoporphyria |
| url | http://www.sciencedirect.com/science/article/pii/S2214426919300679 |
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