Nail patella syndrome revisited: 50 years after linkage.
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.
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway/BRB 407, Baltimore, MD 21205, USA. mcintosh@jhmi.edu
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McIntosh
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Dunston
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Liu
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Hoover-Fong
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Sweeney
D000017:ABO Blood-Group System / Q000235:genetics / Q000266:history*; D000595:Amino Acid Sequence; D000818:Animals; D008040:Genetic Linkage; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D008969:Molecular Sequence Data; D009261:Nail-Patella Syndrome / Q000235:genetics / Q000266:history*
D000017:ABO Blood-Group System