New mutation identified in two sisters with adult‐onset erythropoietic protoporphyria. (20th April 2013)

• Record Type: Journal Article
• Authors: Azad, J.; Brennan, P.; Carmichael, A. J.
• Is Part Of: Clinical and experimental dermatology. Volume 38:Number 6(2013)
• Page Start: 601
• Page End: 605
• Publication Date: 2013-04-20
• Subjects: Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/ced.12076
• Languages: English
• ISSNs: 0307-6938

Abstract

<abstract abstract-type="main" id="ced12076-abs-0001"> <title>Summary</title> <sec id="ced12076-sec-0001" sec-type="section"> <title>Background</title> <p>Erythropoietic protoporphyria (EPP; OMIM #177000) is a rare disease that usually presents in infancy or early childhood. The uncommon adult‐onset EPP is often associated with acquired somatic mutations of the <italic>FECH</italic> gene, secondary to blood dyscracias.</p> </sec> <sec id="ced12076-sec-0002" sec-type="section"> <title>Methods</title> <p>We investigated two sisters with adult‐onset EPP.</p> </sec> <sec id="ced12076-sec-0003" sec-type="section"> <title>Results</title> <p>We found a novel germline mutation in the <italic>FECH</italic> gene, in <italic>trans</italic> with the common hypomorphic IVS3‐48C allele.</p> </sec> <sec id="ced12076-sec-0004" sec-type="section"> <title>Conclusions</title> <p>The adult presentation and identical genotypes of the two sisters suggests that the late development of the condition is to an extent a function of the mutation. The exact mechanism for this delayed penetrance is not clear, although these atypical cases raise the possibility of other genetic or nongenetic disease‐modifying factors.</p> </sec> </abstract>