Nail Patella Syndrome revisited: 50 years after linkage

Iain McIntosh, J. A. Dunston, L. Liu, J. E. Hoover-Fong, E. Sweeney

Research output: Contribution to journalReview articlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)349-363
Number of pages15
JournalAnnals of Human Genetics
Volume69
Issue number4
DOIs
StatePublished - Jul 2005

Keywords

  • Development
  • Gene expression
  • LMX1B
  • Mouse model
  • Nail Patella Syndrome (NPS)
  • Phenotype

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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