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Nail-patella syndrome

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INTRODUCTION

The nail-patella syndrome (NPS) or osteo-onychodysplasia is an autosomal dominant disorder characterized by hypoplastic or absent patella, dystrophic fingernails and toenails, and dysplasia of elbows and iliac horns [1,2]. Renal involvement is inconstant.

The estimated incidence of NPS is 22 per million [3,4]. The disease has been reported in patients all around the world.

GENETICS

The abnormal gene in NPS is located at the distal end of the long arm of chromosome 9. A transcription factor of the LIM-homeodomain type, which plays an important role for limb development in vertebrates, named LMX1B was mapped to the same location at 9q34. A large number of mutations in this gene have been identified in patients with NPS [5-7]; these defects are believed to result in the loss of function of this protein.

Based upon results in homozygous knock-out mice and in vitro assays, LMX1B binds to sequences near and helps control the transcription of multiple genes integral for proper glomerular basement membrane formation and/or glomerular podocyte differentiation and function [8-11]. These include the gene(s) for the following proteins:
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References Top
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