title: Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.
abstract: Small frameshift deletions within the COL4A5 gene were identified in three Alport syndrome Italian families by non-isotopic single-strand conformation polymorphism (SSCP) screening: in family RMA, a 7-bp deletion (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 characterized by juvenile-onset renal failure with sensorineural hearing loss in males, and a milder clinical pattern in heterozygous females.
authors.affiliation: Dipartimento di Biologia Molecolare, Università di Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Renieri
authors.forename: M
authors.initials: M
authors.lastname: Seri
authors.forename: L
authors.initials: L
authors.lastname: Galli
authors.forename: P
authors.initials: P
authors.lastname: Cosci
authors.forename: E
authors.initials: E
authors.lastname: Imbasciati
authors.forename: L
authors.initials: L
authors.lastname: Massella
authors.forename: G
authors.initials: G
authors.lastname: Rizzoni
authors.forename: G
authors.initials: G
authors.lastname: Restagno
authors.forename: A O
authors.initials: AO
authors.lastname: Carbonara
authors.forename: E
authors.initials: E
authors.lastname: Stramignoni
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009394:Nephritis, Hereditary / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D004247:DNA