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Nail Patella Syndrome Revisited: 50 Years After Linkage
Author(s) -
McIntosh I.,
Dunston J. A.,
Liu L.,
HooverFong J. E.,
Sweeney E.
Publication year - 2005
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1529-8817.2005.00191.x
Subject(s) - genetic linkage , genetics , linkage (software) , phenotype , biology , abo blood group system , medicine , gene
Summary Nail Patella Syndrome (NPS; OMIM #161200) is a pleiotropic condition, with a classical clinical tetrad of involvement of the nails, knees, elbows and the presence of iliac horns. Kidney disease and glaucoma are now recognised as part of the syndrome. Fifty years ago, James Renwick chose NPS to develop methods of linkage analysis in humans and revealed the third linkage group identified in man – that between NPS and the ABO blood group loci. After a fallow period of some forty years, the gene mutated in NPS has been identified ( LMX1B ) and the condition serves as a model for understanding the complex relationships between disease loci, modifier genes and the resultant clinical phenotype.