7202 - Mitoferrin-1 Expression in Erythropoietic Protoporphyria

Overview

Status: Recruiting
Keywords: Erythropoietic protoporphyria , EPP
IRB Number: 00057364
Specialty: Hematology/BMT
Sub Specialties:

Brief Summary

To determine if abnormal mitoferrin-1 (MFRN1) expression contributes to the phenotype of individuals with the genetic/metabolic disorder EPP.

Principal Investigator: Charles Parker
Department: Hematology
Co Investigator:

Contact Information

Name:Jeanette Davis
Phone: 801-587-7525
Email: jeanette.davis@hsc.utah.edu

Inclusion Criteria

All subjects must also be enrolled in the Longitudinal Study of the Porphyrias. As in the Longitudinal Study (IRB 45117), the inclusion criteria are based on 1) clinical features, 2) biochemical findings, as documented by laboratory reports (or copies) or porphyria-specific testing performed after 1980, and 3) molecular findings documenting the identification of a mutation in a porphyria-related gene.  In addition, an individual or a parent or guardian must be willing to give written informed consent or assent, as appropriate. 

1.)  Clinical Features - a history of non-blistering cutaneous photosensitivity or a diagnosis of EPP or XLP in a relative

2.)  Biochemical findings - a marked increase in erthrocyte protoporphyrin with a predominance of free protoporphyrin, increased plasma porphyrins in almost all cases and a fluoresence emission peak at ~634 nm, and normal urinary porphyrins and normal ALA and PBG.

3.) Molecular Findings - a disease causing FECH mutation trans to the IVS3-48C>T low expression FECH allele OR two disease-causing FECH mutations OR a gain-of-function ALAS-2 C-terminal deletion/exon 11 mutation (in XLP).

Exclusion Criteria

1. Patient less than seven years of age.

2. Patient is cognitively impaired.

3. Patient refuses to have genotype studies done.

4. Patient refuses to have blood drawn for establishing lymphoblast line.