RT Journal
A1 van Soest, Simone
A1 Swart, Jaap
A1 Tijmes, Nel
A1 Sandkuijl, Lodewijk A.
A1 Rommers, Jago
A1 Bergen, Arthur A.B.
T1 A Locus for Autosomal Recessive Pseudoxanthoma Elasticum, with Penetrance of Vascular Symptoms in Carriers, Maps to Chromosome 16p13.1
JF Genome Research 
JO Genome Research 
YR 1997 
FD August 01 
VO 7 
IS 8 
SP 830 
OP 834 
DO 10.1101/gr.7.8.830 
UL http://genome.cshlp.org/content/7/8/830.abstract 
AB Pseudoxanthoma elasticum (PXE) is a heritable systemic disorder characterized by calcification of the elastic fibers of the connective tissue. Symptoms are predominantly noted in the eye, the skin, and the cardiovascular system, resulting in visual loss, skin lesions, and life-threatening vascular disease. In this study we combined homozygosity mapping and genome scanning with 374 markers in affected individuals from a PXE family from a genetically isolated population in The Netherlands. Initial homozygosity in two or three patients was found with up to 20 markers, among which D16S292 located in 16p13.1. Upon refined and more extensive family screening of the latter region, close linkage without recombination was found with the marker D16S764 (Z
max = 6.27). Despite clear autosomal recessive inheritance of the ocular symptoms in PXE, vascular symptoms appear in 40%–50% of the heterozygotes.