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.

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.

Keyword

Genetic alteration; LMX1B; Nail-patella syndrome; Nephropathy

MeSH Terms

Adolescent
Female
Homeodomain Proteins/*genetics
Humans
*Mutation
Nail-Patella Syndrome/*genetics/pathology
Transcription Factors/*genetics
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