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Ned Tijdschr Geneeskd. 2003 Jan 11;147(2):67-9.

[From gene to disease; the nail-patella syndrome and the LMX1B gene].

[Article in Dutch]

Author information

1
Universitair Medisch Centrum St Radboud, afd. Antropogenetica, Postbus 9101, 6500 HB Nijmegen.

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.

PMID:
12602071
[Indexed for MEDLINE]

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