Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome

American Journal of Medical Genetics
A RenieriM De Marchi

Abstract

Mutations in the COL4A5 gene, which encodes the a5 chain of type IV collagen, are found in a large fraction of patients with X-linked Alport syndrome. The recently discovered COL4A6, tightly linked and highly homologous to COL4A5, represents a second candidate gene for Alport syndrome. We analyzed 177 Italian Alport syndrome families by Southern blotting using cDNA probes from both COL4A5 and COL4A6. Nine unrelated families, accounting for 5% of the cases, were found to have a rearrangement in COL4A5. No rearrangements were found in COL4A6, with the exception of a deletion encompassing the 5' ends of both COL4A5 and COL4A6 genes in a patient with Alport syndrome and leiomyomatosis. COL4A5 rearrangements were all intragenic and included 1 duplication and 7 deletions. Polymerase chain reaction (PCR) analysis was carried out to characterize deletion and duplication boundaries and to predict the resulting protein abnormality. The two smallest deletions involved a single exon (exons 17 and 40, respectively), while the largest ones spanned exons 1 to 36. The clinical phenotype of patients in whom a rearrangement in COL4A5 was detected was severe, with progression to end-stage renal failure in juvenile age and hypoacusis occurring in ...Continue Reading

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Citations

Dec 21, 2007·Nature Clinical Practice. Nephrology·Marie Claire Gubler
Dec 25, 2004·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Giovanni M FrascàUNKNOWN Italian Renal Immunopathology Group
Apr 21, 2011·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Jun MaNan Chen
Feb 2, 2013·Clinical Journal of the American Society of Nephrology : CJASN·Laura MassellaFrancesco Emma
Jan 1, 1997·Human Mutation·H H LemminkH J Smeets
May 1, 2001·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·P BarsottiT Faraggiana
Nov 29, 2020·American Journal of Medical Genetics. Part a·Saskia KoeneGijs W E Santen

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