A Synonymous Genetic Alteration of LMX1B in a Family with Nail-Patella Syndrome.
10.3904/kjim.2009.24.3.274
- Author:
Joo Ho HAM
1
;
Seok Joon SHIN
;
Kyu Re JOO
;
Sung Min PARK
;
Hye Young SUNG
;
Joong Seok KIM
;
Jin Soo CHOI
;
Yeong Jin CHOI
;
Ho Cheol SONG
;
Eui Jin CHOI
Author Information
1. Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea. mdsonghc@yahoo.com
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Genetic alteration;
LMX1B;
Nail-patella syndrome;
Nephropathy
- MeSH:
Adolescent;
Female;
Homeodomain Proteins/*genetics;
Humans;
*Mutation;
Nail-Patella Syndrome/*genetics/pathology;
Transcription Factors/*genetics
- From:The Korean Journal of Internal Medicine
2009;24(3):274-278
- CountryRepublic of Korea
- Language:English
-
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.
