Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs

Eyaid, Wafaa; Clough, Mark V.; Root, Holly; Scott, Kathleen M.; McCormick, Mary Kay; Zhang, Xue; Лисицын, Н. А.; Kearns, W.G.; Francomano, Clair A.; Richards, Julia E.; McIntosh, Iain

doi:10.1007/s004390050862

Cited by 7 publications

(4 citation statements)

References 8 publications

(7 reference statements)

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“… NPS locus and LMX1B gene and protein structure. (A) The NPS locus as defined by genetic and physical mapping approaches (Eyaid et al , 1998; McIntosh et al , 1997) incorporating data from the human genome sequencing project (http://genome.ucsc.edu). (B) Schematic of the LMX1B gene indicating the relative size of exons and introns.…”

Section: Introductionsupporting

confidence: 94%

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Nail Patella Syndrome Revisited: 50 Years After Linkage

McIntosh¹,

Dunston²,

Liu³

et al. 2005

Annals of Human Genetics

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SummaryNail 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.

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Section: Introductionsupporting

confidence: 94%

“…Extremely significant 2‐point LOD scores of 22.0 and 27.0 were achieved with markers D9S315 and D9S112 respectively, at θ= 0.00. Genetic analysis of additional families, together with physical mapping, localized the locus to the interval between D9S315 and D9S2172 (Figure 1A; Eyaid et al 1998).…”

Section: Introductionmentioning

confidence: 99%

Nail Patella Syndrome Revisited: 50 Years After Linkage

McIntosh¹,

Dunston²,

Liu³

et al. 2005

Annals of Human Genetics

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“…Only recently the location of the NPS gene was significantly refined to a 1-cM interval at chromosome 9q34.1 [46,47,48,49,50]. Based on the striking similarity of skeletal and renal dysplasia in NPS and Lmx1b knockout mice [51], together with the mapping of mouse Lmx1b to a region syntenic to human 9q34, Dreyer et al [1] hypothesized that mutations in the human LMX1B gene cause NPS.…”

Section: Geneticsmentioning

confidence: 98%

Nail-patella syndrome. Overview on clinical and molecular findings

Bongers

Gubler

Knoers

2002

Pediatric Nephrology

155

133

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Nail-patella syndrome (NPS) is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns, dysplasia of the elbows, and frequently glaucoma and progressive nephropathy. The recent identification of the causative gene for this syndrome has initiated further studies of the phenotype and molecular pathogenesis of kidney disease in NPS. The gene underlying NPS, LMX1B, is a LIM-homeodomain transcription factor involved in normal patterning of the dorsoventral axis of the limb during development and early morphogenesis of the glomerular basement membrane. Molecular studies of Lmx1b, combined with genetic and immunohistochemical investigation of different alpha chains of type IV collagen in the Lmx1b null mice kidney, a mouse model for NPS, have provided evidence that Lmx1b is involved in the pathogenesis of NPS glomerulopathy. At present evidence for a correlation between the presence and severity of the renal and extrarenal anomalies and LMX1B genotype is lacking. This review focuses on the recent advances in clinical and molecular genetic studies of NPS.

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“…It was one of the first human syndromes to be linked to a polymorphic marker [ABO blood group; Renwick and Lawler, 1955] and subsequently was part of the first three-locus linkage group identified in man [Schleuterman et al, 1969]. Genetic and physical mapping studies refined the interval on chromosome 9q34 [Campeau et al, 1995;McIntosh et al, 1997;Eyaid et al, 1998]. …”

Section: Introductionmentioning

confidence: 98%