title: Nail-patella syndrome-a novel mutation in the LMX1B gene.
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.
authors.affiliation: Department of Nephrology , Amrita School of Medicine, Kochi, India.
authors.forename: Rajesh R
authors.initials: RR
authors.lastname: Nair
authors.affiliation: Department of Nephrology , Amrita School of Medicine, Kochi, India.
authors.forename: Vavullipathy N
authors.initials: VN
authors.lastname: Unni
authors.affiliation: Department of Nephrology , Amrita School of Medicine, Kochi, India.
authors.forename: Kadevalappil N
authors.initials: KN
authors.lastname: Indu
authors.affiliation: Department of Pediatric Genetics , Amrita School of Medicine, Kochi, India.
authors.forename: Sheela
authors.initials: S
authors.lastname: Nampoothiri
authors.affiliation: Department of Nephrology , Amrita School of Medicine, Kochi, India.
authors.forename: Anil
authors.initials: A
authors.lastname: Mathew
authors.affiliation: Department of Nephrology , Amrita School of Medicine, Kochi, India.
authors.forename: George
authors.initials: G
authors.lastname: Kurian
authors.affiliation: Department of Nephrology , Government Medical College , Kottayam, Kerala, India.
authors.forename: Avadaiammal
authors.initials: A
authors.lastname: Vimala
keywords: Nail-patella syndrome (NPS); de novo LMX1B mutation; end-stage renal disease (ESRD); renal transplantation