DELETION SPANNING THE 5' ENDS OF BOTH THE COL4A5 AND COL4A6 GENES IN A PATIENT WITH ALPORTS-SYNDROME AND LEIOMYOMATOSIS

Alport's syndrome is characterized clinically by a nonimmune glomerulo pathy, often accompanied by sensorineural hearing loss and lens abnorm alities, frequently due to mutations in the COL4A5 gene.; The associat ion of AS with diffuse leiomyomatosis, a benign proliferation of smoot h 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 le iomyomatosis carrying a deletion of both COL4A5 and COL4A6 genes. A de tailed characterization of the genomic region involved in the deletion event has been performed. Our results demonstrate that the deletion r emoved exon 1 of COL4A5 and exons 1 and 2 of COL4A6. (C) 1994 Wiley-Li ss, Inc.