Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.
Clin Med Insights Pediatr
; 6: 41-9, 2012.
Article
em En
| MEDLINE
| ID: mdl-23641165
ABSTRACT
BACKGROUND:
Alport syndrome is a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family. It is a genetically heterogeneous disease with different mutations and forms of inheritance that presents with renal affection, hearing loss and eye defects. Several new mutations related to X-linked forms have been previously determined.METHODS:
We report the case of a 12 years old male and his family diagnosed with Alport syndrome after genetic analysis was performed.RESULT:
A new mutation determining a nucleotide change c.3614G > T (p.Gly1205Val) in hemizygosis in the COL4A5 gene was found. This molecular defect has not been previously described.CONCLUSION:
Molecular biology has helped us to comprehend the mechanisms of pathophysiology in Alport syndrome. Genetic analysis provides the only conclusive diagnosis of the disorder at the moment. Our contribution with a new mutation further supports the need of more sophisticated molecular methods to increase the mutation detection rates with lower costs and less time.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Clin Med Insights Pediatr
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Espanha