ALPORT References

The web links shown below are existing online resources for ALPORT Syndromeand the COL4A5 gene. Links to several review journal articles are given, as well as genome and protein links.

Please contact us to suggest additional content for this page.

Disease Information Links

• The National Kidney Foundation
• Alport Syndrome Foundation
• GeneReviews
• ARUP Consult
• LOVD COL4A5 mutation database (Judy Savige and Helen Storey)
  • This link has been temporarily removed as we noted mistakes in the numbering and nomenclature of mutations after exon 41. If you have any questions please contact Dr. Pont-Kingdon.
• Genetics Home Reference
• Variants in ClinVar
• Clinical Utility Gene Card

Gene and Protein Links

• COL4A5 RefSeqGen: NC_000023
• COL4A5 mRNA: NM_000495
• COL4A5 protein: NP_000486,  HPRD 02363 and UniProtKB Q49AM6

ARUP Testing: COL4A5

• ALPORT FGA #2002398 Full Gene Analysis  (Sanger Sequencing and Deletion/Duplication)
• ALPORT FGS #0051786 Full Gene Sequencing (Sanger Sequencing)
• ALPORT DD # 2002394 (Deletion/Duplication)
• SEG FSM #2001961 (Familial Mutation, Targeted Sequencing)

Peer-Reviewed Literature

• Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990; 248:1224-1227.
• Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG. Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med. 2003;348(25):2543-2556.
• Gregory MC. Alport syndrome and thin basement membrane nephropathy: unraveling the tangled strands of type IV collagen. Kidney Int. 2004;65(3):1109-1110.
• Crockett DK, Pont-Kingdon G, Gedge F, Sumner K, Seamons R, Lyon E. The Alport syndrome CO4A5 varient database. Hum Mutat 2010;31(8):E1652-7.
• Kashtan CE. Collagen IV-Related Nephropathies (Alport Syndrome and thin Basement Membrane Nephropathy); Gene Reviews; genetest.org: Last Rev. 23 January 2008 GeneTests (Accessed 10/1/2013)
• The International Alport Mutation Consortium, Savige J, Ars E, Cotton RG, Crockett D, Dagher H, Deltas C, Ding J, Flinter F, Pont-Kingdon G, Smaoui N, Torra R, Storey H. DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Pediatr Nephrol. 2013 May 30.
• Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F.  Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013 Feb;24(3):364-75.
• Kruegel J, Rubel D, Gross O. Alport syndrome--insights from basic and clinical research. Nat Rev Nephrol. 2013 Mar;9(3):170-8. doi: 10.1038/nrneph.2012.259. Epub 2012 Nov 20.
• Tsiakkis D, Pieri M, Koupepidou P, Demosthenous P, Panayidou K, Deltas C. Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5. Clin Genet. 2012 Sep;82(3):297-9.
• Hertz JM, Thomassen M, Storey H, Flinter F. Clinical utility gene card for: Alport syndrome. Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2011.237. Epub 2011 Dec 14.