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Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).

Molecular genetics and metabolism - 1 Aug 2018

Brancaleoni Valentina, Granata Francesca, Missineo Pasquale, Fustinoni Silvia, Graziadei Giovanna, Di Pierro Elena

Abstract excerpt

Alterations in the ferrochelatase gene (FECH) are the basis of the phenotypic expressions in erythropoietic protoporphyria. The phenotype is due to the presence of a mutation in the FECH gene associated in trans to the c.315-48 T > C variant in the intron 3. The latter is able to increase the physiological quota of alternative splicing events in the intron 3. Other two variants in the FECH gene (c.1-252A > G and...

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Source

Identifiers

PMID: 29941360
DOI: 10.1016/j.ymgme.2018.06.005

Genes

FECH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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