Publication Type : Journal Article
Thematic Areas : Medical Sciences
Publisher : Clinical Kidney Journal
Source : Clinical Kidney Journal, Volume 6, Number 3, p.305-307 (2013)
Url : http://dx.doi.org/10.1093/ckj/sft035
Campus : Kochi
School : School of Medicine
Center : Amrita Institute of Medical Science
Verified : Yes
Year : 2013
Abstract : 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.
Cite this Research Publication : R. R. Nair, Unni, V. N., Indu, K. N., Nampoothiri, S., Mathew, A., Kurian, G., and Vimala, A., “Nail-Patella Syndrome—A Novel Mutation in the LMX1B Gene”, Clinical Kidney Journal, vol. 6, pp. 305-307, 2013.