Trial Information

Genetic Analysis of Patients With Pseudoxanthoma Elasticum (PXE)

Background:

- Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized
by mutations in the ATP-binding cassette transporter, ABCC6.

- PXE while it is known that patients have two mutated alleles of the ABCC6 gene,
significant questions remain about the segregation of the disease, the presentation in
males versus females and the correlation of mutation to clinical phenotype.

Objectives:

- The objective is to examine the role of variants in the ABCC6 gene in PXE.

Eligibility:

- Samples from study participants were obtained through the PXE International BioBank.

- Families were selected that have samples from both parents and at least one sibling in
addition to the proband.

Design:

- Participants' DNA was sequenced to identify variants and genotyped for linked markers to
follow the segregation of mutant alleles and compare the results with the clinical outcomes.