Nail Patella Syndrome revisited: 50 years after linkage

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

doi:10.1111/j.1529-8817.2005.00191.x

Nail Patella Syndrome revisited: 50 years after linkage

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

School of Medicine

Research output: Contribution to journal › Review article › peer-review

32 Scopus citations

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 language	English (US)
Pages (from-to)	349-363
Number of pages	15
Journal	Annals of Human Genetics
Volume	69
Issue number	4
DOIs	https://doi.org/10.1111/j.1529-8817.2005.00191.x
State	Published - 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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10.1111/j.1529-8817.2005.00191.x

Cite this

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title = "Nail Patella Syndrome revisited: 50 years after linkage",

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.",

keywords = "Development, Gene expression, LMX1B, Mouse model, Nail Patella Syndrome (NPS), Phenotype",

author = "Iain McIntosh and Dunston, {J. A.} and L. Liu and Hoover-Fong, {J. E.} and E. Sweeney",

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T2 - 50 years after linkage

AU - McIntosh, Iain

AU - Dunston, J. A.

AU - Liu, L.

AU - Hoover-Fong, J. E.

AU - Sweeney, E.

PY - 2005/7

Y1 - 2005/7

N2 - 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.

AB - 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.

KW - Development

KW - Gene expression

KW - LMX1B

KW - Mouse model

KW - Nail Patella Syndrome (NPS)

KW - Phenotype

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Nail Patella Syndrome revisited: 50 years after linkage

Abstract

Keywords

ASJC Scopus subject areas

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