Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

F T van der Loop, L Heidet, E D Timmer, B J van den Bosch, A Leinonen, C Antignac, J A Jefferson, A P Maxwell, L A Monnens, C H Schröder, H J Smeets

Research output: Contribution to journalArticlepeer-review

125 Citations (Scopus)


Alport syndrome (AS) is a clinically and genetically heterogeneous renal disorder, predominantly affecting the type IV collagen alpha 3/alpha 4/alpha 5 network of the glomerular basement membrane (GBM). AS can be caused by mutations in any of the three genes encoding these type IV collagen chains. The majority of AS families (85%) are X-linked (XL-AS) involving mutations in the COL4A5 gene. Mutations in the COL4A3 and COL4A4 genes cause autosomal recessive AS (AR-AS), accounting for approximately 14% of the cases. Recently, autosomal dominant AS (AD-AS) was linked to the COL4A3/COL4A4 locus in a large family.
Original languageEnglish
Pages (from-to)1870-5
Number of pages6
JournalKidney International
Issue number5
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Nephrology

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