SMALL FRAMESHIFT DELETIONS WITHIN THE COL4A5 GENE IN JUVENILE-ONSET ALPORT SYNDROME

Small frameshift deletions within the COL4A5 gene were identified in t hree Alport syndrome Italian families by non-isotopic single-strand co nformation polymorphism (SSCP) screening: in family RMA, a 7-bp deleti on (GGGTGAA) in exon 39; in family DGR, a 4-bp deletion (TGGA) in exon 41; in family MIB, deletion of a G in exon 50. The phenotype was char acterized by juvenile-onset renal failure with sensorineural hearing l oss in males, and a milder clinical pattern in heterozygous females.