ArticleClinical medicine insights. Pediatrics2012
Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.
Article in Clinical medicine insights. Pediatrics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Ocular Manifestations and Potential Treatments of Alport Syndrome: A Systematic Review.Journal of ophthalmology · 2022Review
- Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.Pediatric nephrology (Berlin, Germany) · 2016Article
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6 authors.
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Abstract
backgroundAlport 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.
methodsWe report the case of a 12 years old male and his family diagnosed with Alport syndrome after genetic analysis was performed.
resultA 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.
conclusionMolecular 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.
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