Mode Of Inheritance

Pseudoxanthoma elasticum is caused by mutations in the ABCC6 gene.[2-4] It is inherited in an autosomal recessive fashion, but is most frequently encountered sporadically.1-1-1 However, affected individuals in two generations, suggesting autosomal dominant inheritance, have been frequently reported. In addition, a limited phenotype, often reflected only by positive histopathology at predilection sites of skin and by asymptomatic eye findings, has been reported in presumed obligate heterozygous carriers within PXE families. Molecular evaluation of some of these families revealed the presence of at least two different compound heterozygotes with segregation of a total of three different mutations[5] (Fig. 1). The disparities in phenotype within those families may well be explained by the difference in the set of mutations inherited. The mild phenotype was often associated with at least one missense mutation in the ABCC6 gene, which would predict in some cases residual activity of the gene product. In other multigenerational families, consanguinity accounted for the pseudodominant inheritance of PXE. Refined mutation screening techniques led to the detection of two mutated alleles in almost all affected individuals, thus contradicting the existence of autosomal dominant forms of PXE. In fact, the mode of transmission is autosomal recessive in all affected individuals elucidated thus far at the molecular level.[5]

Was this article helpful?

0 0
Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook

Post a comment