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New mutation identified in two sisters with adult-onset erythropoietic protoporphyria

Authors


  • Conflict of interest: none declared.

Correspondence: Dr Jaskiran Azad, Department of Dermatology, James Cook University Hospital, Marton Road, Middlesbrough, TS4 3BW, UK

E-mail: jaskiran.azad@stees.nhs.uk

Summary

Background

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.

Methods

We investigated two sisters with adult-onset EPP.

Results

We found a novel germline mutation in the FECH gene, in trans with the common hypomorphic IVS3-48C allele.

Conclusions

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.

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