Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria?

IF 2.3 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-06-19 DOI:10.1111/cge.70007

Pedro Gabriel Dotto, Mônica Ribeiro de Azevedo Vasconccellos, José Francisco da Silva Franco, Caio Perez Gomes, João Bosco Pesquero

引用次数: 0

Abstract

We report a patient homozygous for the UROD c.185C>T (p.P62L) variant who presents with clinical features resembling familial porphyria cutanea tarda (PCT). This case highlights the limitations of rigid UROD-related porphyria classifications and supports the existence of a phenotypic continuum modulated by genetic, epigenetic, and environmental factors.

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纯合子UROD突变的不典型表现：迟发性皮肤卟啉症还是轻度肝促红细胞生成性卟啉症？

我们报告了一例UROD c.185C >t （p.P62L）变异纯合子患者，其临床特征与家族性迟发性皮肤卟啉症（PCT）相似。该病例强调了与尿毒症相关的卟啉症严格分类的局限性，并支持了由遗传、表观遗传和环境因素调节的表型连续体的存在。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease