Conflict of interest: none declared.
Clinical dermatology ● Original article
New mutation identified in two sisters with adult-onset erythropoietic protoporphyria
Article first published online: 20 APR 2013
© 2013 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 38, Issue 6, pages 601–605, August 2013
How to Cite
Azad, J., Brennan, P. and Carmichael, A. J. (2013), New mutation identified in two sisters with adult-onset erythropoietic protoporphyria. Clinical and Experimental Dermatology, 38: 601–605. doi: 10.1111/ced.12076
- Issue published online: 10 JUL 2013
- Article first published online: 20 APR 2013
- Manuscript Accepted: 3 SEP 2012
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 FECH gene, secondary to blood dyscracias.
We investigated two sisters with adult-onset EPP.
We found a novel germline mutation in the FECH gene, in trans with the common hypomorphic IVS3-48C allele.
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.