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

Hum Mutat. 1994;4(3):195-8. doi: 10.1002/humu.1380040304.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Mapping
  • Collagen / genetics*
  • DNA / genetics
  • Exons
  • Gene Deletion*
  • Humans
  • Leiomyomatosis / complications*
  • Leiomyomatosis / genetics*
  • Male
  • Nephritis, Hereditary / complications*
  • Nephritis, Hereditary / genetics*
  • Polymerase Chain Reaction


  • Collagen
  • DNA

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