Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria

Background: Congenital erythropoietic porphyria (CEP, OMIM #263700) is a rare autosomal recessive disease characterized by skin photosensitivity, hypertrichosis, scarring in light-exposed areas, erythrodontia, and dark-reddish urine. The severity of the clinical phenotype is directly associated with...

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Hauptverfasser:	Ning Jia, Yusupu Yimin, Ming Li, Long Jiang, Yeqiang Liu
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2025-03-01
Schriftenreihe:	Frontiers in Genetics
Schlagworte:	uroporphyrinogen III synthase uroporphyrinogen I mutation detection erythropoietic porphyria Sanger sequencing
Online-Zugang:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1486595/full
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