Nail-patella syndrome - A novel mutation in the LMX1B gene
Publication Type:Journal Article
Source:Clinical Kidney Journal, Volume 6, Number 3, p.305-307 (2013)
Keywords:adult, alanine, ankylosis, article, blindness, case report, chronic kidney disease, codon, congenital glaucoma, conservative treatment, cornea disease, cytosine, disease association, DNA binding, DNA determination, family history, foot edema, genetic analysis, glomerulosclerosis, hemodialysis, human, hypertension, kidney biopsy, kidney disease, kidney failure, kidney fibrosis, kidney transplantation, male, missense mutation, nail dysplasia, nail patella syndrome, nystagmus, physical examination, priority journal, pterygium, radiography, skeleton malformation, subluxation, thymine, valine
Nail-patella syndrome (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, skeletal anomalies and frequently renal disease. In the reported case, genetic analysis revealed a new missense mutation in the homeodomain of LMX1B, presumed to abolish DNA binding (c.725T>C, p.Val242Ala). A missense mutation at codon 725 was identified, where thymine was replaced by cytosine which led to the replacement of valine by alanine at position 242. It was not detected in both parents. A 2005 study by Bongers et al. described a significant association between the presence of clinically relevant renal involvement in an NPS patient and a positive family history of nephropathy, which was lacking in our case. © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.
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