A Synonymous Genetic Alteration of LMX1B in a Family with Nail-Patella Syndrome
The Korean Journal of Internal Medicine
; : 274-278, 2009.
Article
in En
| WPRIM
| ID: wpr-181197
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Transcription Factors
/
Homeodomain Proteins
/
Mutation
/
Nail-Patella Syndrome
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Female
/
Humans
Language:
En
Journal:
The Korean Journal of Internal Medicine
Year:
2009
Type:
Article