Copy number variation in the ATP‐binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum

In conclusion, by pyrosequencing and quantitative PCR, we were able to detect known and possibly new deletions in the ABCC6 gene that may have caused the PXE phenotype. Pyrosequencing may be used in PXE patients who have obtained incomplete genotype from conventional techniques. The frequency of ABCC6P2 pseudogene duplication was more common in PXE patients than healthy individuals and may affect the PXE phenotype.

In this study, principally by pyrosequencing, we were able to detect known and possibly new deletions in the ABCC6 gene that may have caused pseudoxanthoma elasticum (PXE). Also, duplication of the ABCC6P2 pseudogene was common in PXE patients which may possibly affect the PXE phenotype.

Source: Molecular Genetics & Genomic Medicine - March 1, 2015 Category: Genetics & Stem Cells Authors: Marianne K. Kringen, Camilla Stormo, Jens Petter Berg, Sharon F. Terry, Christine M. Vocke, Samar Rizvi, Doris Hendig, Armin P. Piehler Tags: Original Article Source Type: research