[Pseudodominant inheritance of pseudoxanthoma elasticum].
Pseudoxanthoma elasticum (PXE) is a system disease due to mutations in the ABCC6 gene with characteristic alterations in the eyes, the skin and the cardiovascular system. Herein, we report on two families with PXE in two subsequent generations due to genetically confirmed pseudodominance. A literature review revealed that PXE due to mutations in ABCC6 follows an autosomal recessive inheritance and that disease manifestation in two subsequent generations is due to pseudodominance.
Universitäts-Augenklinik Bonn, Ernst-Abbe-Str. 2, 53127, Bonn, Deutschland, peter.issa@ukb.uni-bonn.de.
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Charbel Issa
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Gliem
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Holz
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Knabbe
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Hendig
D000328:Adult; D000368:Aged; D005799:Genes, Dominant; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis* / Q000235:genetics*
D005819:Genetic Markers; D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human