%0 Journal Article
%T Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine
%A Pilar Ant¨®n-Mart¨ªn
%A Cristina Aparicio L¨®pez
%A Soraya Ramiro-Le¨®n
%A Sonia Santill¨¢n Garz¨®n
%A Fernando Santos-Simarro and Bel¨¦n Gil-Fournier
%J Clinical Medicine Insights: Pediatrics
%D 2012
%I 
%R 10.4137/CMPed.S7509
%X 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.
%U http://www.la-press.com/alport-syndrome-de-novo-mutation-in-the-col4a5-gene-converting-glycine-article-a3243