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.
Dipartimento di Biologia Molecolare, Università di Siena, Italy.
A
A
Renieri
M T
MT
Bassi
L
L
Galli
J
J
Zhou
M
M
Giani
M
M
De Marchi
A
A
Ballabio
D000328:Adult; D002874:Chromosome Mapping; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D018231:Leiomyomatosis / Q000150:complications* / Q000235:genetics*; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications* / Q000235:genetics*; D016133:Polymerase Chain Reaction
D003094:Collagen; D004247:DNA