Article
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.
Clinical genetics - 1 Jan 2016
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
Abstract excerpt
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 liver dysfunction. XLP was originally reported as X-linked dominant with 100% penetrance in males and females. We...
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