Korean J Intern Med.
2009 Sep;24(3):274-278. 10.3904/kjim.2009.24.3.274.
A Synonymous Genetic Alteration of LMX1B in a Family with Nail-Patella Syndrome
- Affiliations
-
- 1Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea. mdsonghc@yahoo.com
- 2Department of Neurology, The Catholic University of Korea College of Medicine, Seoul, Korea.
- 3Neuroscience Genome Research Center, The Catholic University of Korea College of Medicine, Seoul, Korea.
- 4Department of Pathology, The Catholic University of Korea College of Medicine, Seoul, Korea.
- KMID: 1717953
- DOI: http://doi.org/10.3904/kjim.2009.24.3.274
Abstract
- The gene responsible for nail-patella syndrome, LMX1B, has recently been identified on chromosome 9q. Here we present a patient with nail-patella syndrome and an autosomal dominant pattern of inheritance. A 17-year-old girl visited our clinic for the evaluation and treatment of proteinuria. She had dystrophic nails, palpable iliac horns, and hypoplastic patellae. Electron microscopy of a renal biopsy showed irregular thickening of the glomerular basement membrane. A family history over three generations revealed five affected family members. Genetic analysis found a change of TCG to TCC, resulting in a synonymous alteration at codon 219 in exon 4 of the LMX1B gene in two affected family members. The same alteration was not detected in an unaffected family member. This is the first report of familial nail-patella syndrome associated with an LMX1B in Korea mutation, However, we can not completely rule out the possibility that the G-to-C change may be a single nucleotide polymorphism as this genetic mutation cause no alteration in amino acid sequence of LMX1B.
