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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.

Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and lens abnormalities, frequently due to mutations in the COL4A5 gene. The association of AS with diffuse leiomyomatosis, a benign proliferation of smooth muscle that occurs most often in the esophagus, trachea, and female genitalia, has been reported. Recently, a deletion involving both the COL4A5 and COL4A6 genes has been reported in four unrelated families. We report an additional case with Alport's syndrome associated with leiomyomatosis carrying a deletion of both COL4A5 and COL4A6 genes. A detailed characterization of the genomic region involved in the deletion event has been performed. Our results demonstrate that the deletion removed exon 1 of COL4A5 and exons 1 and 2 of COL4A6.[1]

References

  1. Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis. Renieri, A., Bassi, M.T., Galli, L., Zhou, J., Giani, M., De Marchi, M., Ballabio, A. Hum. Mutat. (1994) [Pubmed]
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