ArticleMolecular medicine (Cambridge, Mass.)2013
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
Article in Molecular medicine (Cambridge, Mass.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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46 citing papers in PubMed, 96 citations in OpenAlex.
- Prevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria.The Journal of dermatology · 2018Trial
- Afamelanotide for Erythropoietic Protoporphyria.The New England journal of medicine · 2015Trial
- Genetic testing to distinguish X-linked protoporphyria from erythropoietic protoporphyria informed iron replacement therapy leading to reversal of severe protoporphyric hepatopathy.Molecular genetics and metabolism reports · 2026Article
- Understanding the Clinical Spectrum of the Cutaneous and Acute Hepatic Porphyrias.American journal of clinical dermatology · 2026Review
- Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.Orphanet journal of rare diseases · 2025Review
- The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.Scientific reports · 2025Article
- Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management.Liver international : official journal of the International Association for the Study of the Liver · 2025Review
- Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report.Frontiers in medicine · 2025Article
- Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria.Frontiers in genetics · 2025Article
- Article
- Impact of Phosphorylation at Various Sites on the Active Pocket of Human Ferrochelatase: Insights from Molecular Dynamics Simulations.International journal of molecular sciences · 2024Article
- Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria.Pharmaceuticals (Basel, Switzerland) · 2023Review
- Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria.Journal of the American Academy of Dermatology · 2023Article
- Harnessing large language models (LLMs) for candidate gene prioritization and selection.Journal of translational medicine · 2023Article
- The yeast ALA synthase C-terminus positively controls enzyme structure and function.Protein science : a publication of the Protein Society · 2023Article
- A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria.Molecular genetics and metabolism reports · 2022Article
- Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria.Diagnostics (Basel, Switzerland) · 2022Review
- Porphyrias in the Age of Targeted Therapies.Diagnostics (Basel, Switzerland) · 2021Review
- A Novel Mechanism for NF-κB-activation via IκB-aggregation: Implications for Hepatic Mallory-Denk-Body Induced Inflammation.Molecular & cellular proteomics : MCP · 2020Article
- Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.Nature communications · 2020Article
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14 authors at 7 institutions in 1 country.
Funding
Abstract
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of heme biosynthesis with the same phenotype but resulting from autosomal recessive loss-of-function mutations in the ferrochelatase (FECH) gene and gain-of-function mutations in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene, respectively. The EPP phenotype is characterized by acute, painful, cutaneous photosensitivity and elevated erythrocyte protoporphyrin levels. We report the FECH and ALAS2 mutations in 155 unrelated North American patients with the EPP phenotype. FECH sequencing and dosage analyses identified 140 patients with EPP: 134 with one loss-of-function allele and the common IVS3-48T>C low expression allele, three with two loss-of-function mutations and three with one loss-of-function mutation and two low expression alleles. There were 48 previously reported and 23 novel FECH mutations. The remaining 15 probands had ALAS2 gain-of-function mutations causing XLP: 13 with the previously reported deletion, c.1706_1709delAGTG, and two with novel mutations, c.1734delG and c.1642C>T(p.Q548X). Notably, XLP represented ~10% of EPP phenotype patients in North America, two to five times more than in Western Europe. XLP males had twofold higher erythrocyte protoporphyrin levels than EPP patients, predisposing to more severe photosensitivity and liver disease. Identification of XLP patients permits accurate diagnosis and counseling of at-risk relatives and asymptomatic heterozygotes.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.