title: Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.
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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Pediatrics, Division of Nephrology, Hospital Universitario de Getafe, Madrid, Spain.
authors: Pilar
authors: P
authors: Antón-Martín
authors: Cristina
authors: C
authors: Aparicio López
authors: Soraya
authors: S
authors: Ramiro-León
authors: Sonia
authors: S
authors: Santillán Garzón
authors: Fernando
authors: F
authors: Santos-Simarro
authors: Belén
authors: B
authors: Gil-Fournier
keywords: Alport syndrome; COL4A5 gene; X-linked inheritance; de novo mutation; lyonization
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