Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome

Alessandra Renieri, Marco Seri, Lucia Galli, Pablo Cosci, Enrico Imbasciati, Laura Massella, Gianfranco Rizzoni, Gabriella Restagno, Angelo O. Carbonara, Emanuele Stramignoni, Bruno Basolo, Giuseppe Piccoli, Mario De Marchi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)417-420
Number of pages4
JournalHuman Genetics
Volume92
Issue number4
DOIs
Publication statusPublished - Oct 1993

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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