Heterozygosity for a Single Mutation in the ABCC6 Gene May Closely Mimic PXE

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers

“…The occurrence of a mild skin phenotype was previously reported in heterozygous carriers of ABCC6 mutations, although the findings could not be replicated in another study (Martin et al, 2007, 2008; Plomp et al, 2009). By searching for biomarkers in biological fluids of PXE patients, we and others observed that unaffected first-degree relatives mostly display results, e.g., for serum fetuin-A, desmosine, that were different from normal and intermediate between that of the PXE patients and the controls (Annovazzi et al, 2004; Hendig et al, 2006).…”

Diagnosing Monogenic Stroke at Younger Age

“…The Supplemental Material (Supplemental Table and Supplemental Supporting Information) provide detailed case descriptions of the probands where variants were found in genes known to be related to the same stroke subtype that the proband had. 19–49 We also explain our interpretation of the clinical relevance of the findings. Pedigree drawings are shown in Figure 2.…”

Yellow papules: the iceberg of systemic elastorrhexis

“…To date, over 300 distinct mutations have been identified. Even if the disease is recessive, carriers of single mutant allele of the ABCC6 were reported and they can rarely develop a severe ophthalmologic or cardiovascular manifestations [7]. In our patient the genetic counselling couldn't be done due to the absence of specialized laboratory on the molecular biology.…”