Publications
Detailed Information
Clinico-genetic study of nail-patella syndrome
Cited 12 time in
Web of Science
Cited 11 time in Scopus
- Authors
- Issue Date
- 2009-02-12
- Publisher
- Korean Academy of Medical Science
- Citation
- J Korean Med Sci. 2009 Jan;24 Suppl:S82-6. Epub 2009 Jan 28.
- Keywords
- Adolescent ; Child ; Child, Preschool ; DNA Primers/chemistry ; Female ; Genotype ; Homeodomain Proteins/*genetics ; Humans ; Infant ; Kidney Failure, Chronic/genetics ; Korea ; Male ; Mutation ; Nail-Patella Syndrome/diagnosis/*genetics/physiopathology ; Phenotype ; Transcription Factors/*genetics
- Abstract
- Nail-patella syndrome (NPS) is an autosomal dominant disease that typically involves the nails, knees, elbows and the presence of iliac horns. In addition, some patients develop glomerulopathy or adult-onset glaucoma. NPS is caused by loss-of-function mutations in the LMX1B gene. In this study, phenotype-genotype correlation was analyzed in 9 unrelated Korean children with NPS and their affected family members. The probands included 5 boy and 4 girls who were confirmed to have NPS, as well as 6 of their affected parents. All of the patients (100%) had dysplastic nails, while 13 patients (86.7%) had patellar anomalies, 8 (53.3%) had iliac horns, 6 (40.0%) had elbow contracture, and 4 (26.7%) had nephropathy including one patient who developed end-stage renal disease at age 4.2. The genetic study revealed 8 different LMX1B mutations (5 missense mutations, 1 frame-shifting deletion and 2 abnormal splicing mutations), 6 of which were novel. Genotype-phenotype correlation was not identified, but inter- and intrafamilial phenotypic variability was observed. Overall, these findings are similar to the results of previously conducted studies, and the mechanism underlying the phenotypic variations and predisposing factors of the development and progression of nephropathy in NPS patients are still unknown.
- ISSN
- 1011-8934 (Print)
- Language
- English
- URI
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19194568
https://hdl.handle.net/10371/46625
- Files in This Item:
Item View & Download Count
Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.