title: [From gene to disease; the nail-patella syndrome and the LMX1B gene].
abstract: Nail-patella syndrome (NPS) is an autosomal dominant hereditary disorder characterised by nail dysplasia, patellar apoplasia/hypoplasia, iliac horns, elbow dysplasia, and frequently primary open angle glaucoma and progressive nephropathy. The gene underlying NPS, LMX1B on chromosome 9q34.1, is a transcription factor involved in the normal dorsoventral patterning of the limb and normal development of the glomerular basement membrane in the kidney. Recent studies suggest a role for LMX1B in the regulation of collagen IV expression and in the transcriptional regulation of podocyte specification and differentiation. At present, no evidence for a correlation between the presence and severity of the clinical anomalies and the LMX1B genotype has been found.
authors.affiliation: Universitair Medisch Centrum St Radboud, afd. Antropogenetica, Postbus 9101, 6500 HB Nijmegen.
authors.forename: E M H F
authors.initials: EM
authors.lastname: Bongers
authors.forename: N V A M
authors.initials: NV
authors.lastname: Knoers
mesh_terms: D002899:Chromosomes, Human, Pair 9; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics* / Q000502:physiology; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics; D060850:LIM-Homeodomain Proteins; D009154:Mutation; D009261:Nail-Patella Syndrome / Q000235:genetics*; D009262:Nails / Q000473:pathology; D010329:Patella / Q000473:pathology; D014157:Transcription Factors
chemical_list: D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors