X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria

X‐linked protoporphyria (XLP), a rare erythropoietic porphyria, results from terminal exon gain‐of‐function mutations in the ALAS2 gene causing increased ALAS2 activity and markedly increased erythrocyte protoporphyrin levels. Patients present with severe cutaneous photosensitivity and may develop l...

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Veröffentlicht in:	Clinical genetics 2016-01, Vol.89 (1), p.20-26
Hauptverfasser:	Brancaleoni, V., Balwani, M., Granata, F., Graziadei, G., Missineo, P., Fiorentino, V., Fustinoni, S., Cappellini, M.D., Naik, H., Desnick, R.J., Di Pierro, E.
Format:	Artikel
Sprache:	eng
Schlagworte:	ALAS2 Alleles Androgen receptors Classification Erythrocytes - metabolism Female Females Genes, X-Linked Genetic Diseases, X-Linked - diagnosis Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - metabolism Genetic disorders Genotype Genotype & phenotype Heterozygotes Humans Liver diseases Male Mutation Nuclear Proteins - genetics Pedigree Peripheral blood Phenotype Photosensitivity Porphyria Porphyrins - metabolism Protoporphyria, Erythropoietic - diagnosis Protoporphyria, Erythropoietic - genetics Protoporphyria, Erythropoietic - metabolism Protoporphyrin Protoporphyrins - metabolism Receptors, Androgen - genetics X Chromosome Inactivation X-chromosomal inactivation X-linked protoporphyria Zinc finger proteins
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