OMIA 000636-9823 : Membranoproliferative glomerulonephritis type II in Sus scrofa

See the equivalent entry at NCBI

Possible human homologue (MIM number): 235400

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key mutation known: yes

Year key mutation first reported: 2002

Cross-species summary: A progressive inflammation of the capillary loops in the glomeruli of the kidney, in which the glomeruli become enlarged as a result of proliferation of mesangial cells and irregular thickening of the capillary walls, due to massive glomeruli deposits of complement component C3 and the terminal C5b-C9 complement complex.

Species-specific name: Porcine dense deposit disease; Hereditary factor H deficiency

Species-specific symbol: MPGN II

Species-specific description: In pigs, this disorder is due to a deficiency of complement factor H, a protein whose task is to restrict the formation of C3 convertase. The hypermetabolism of the excess C3 results in deposits of complement in the kidneys, and in hypocomplementaemia.

Inheritance: From matings designed to investigate the inheritance of this disorder, Jansen et al. (1995) obtained convincing evidence of autosomal recessive inheritance.

Molecular basis: By cloning and sequencing a very likely candidate gene (based on knowledge that the disorder is due to deficiency of Factor H), Hegasy et al. (2002) discovered that the molecular basis for this disorder is a missense mutation (T3610G) in the gene for factor H, resulting in an I1166R amino-acid substitution. [FN 13 Jan 2003; 21 Sep 2012]

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CFH complement factor H Sus scrofa - no genomic information (-..-) CFH Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Membranoproliferative glomerulonephritis type II CFH missense c.3610T>G p.I1166R 2002 12466119

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2011 Vezzali, E., Manno, R.A., Salerno, D., Oberto, G., Nyska, A., Ramot, Y. :
Spontaneous glomerulonephritis in Göttingen minipigs. Toxicol Pathol 39:700-5, 2011. Pubmed reference: 21628719. DOI: 10.1177/0192623311406930.
2002 Hegasy, G.A., Manuelian, T., Hogasen, K., Jansen, J.H., Zipfel, P.F. :
The molecular basis for hereditary porcine membranoproliferative glomerulonephritis type II - Point mutations in the factor H coding sequence block protein secretion American Journal of Pathology 161:2027-2034, 2002. Pubmed reference: 12466119. DOI: 10.1016/S0002-9440(10)64481-1.
1998 Jansen, J.H., Hogasen, K., Harboe, M., Hovig, T. :
In situ complement activation in porcine membranoproliferative glomerulonephritis type II Kidney International 53:331-349, 1998. Pubmed reference: 9461093. DOI: 10.1046/j.1523-1755.1998.00765.x.
1997 Hogasen, K., Jansen, J.H., Harboe, M. :
Eradication of porcine factor H deficiency in Norway Veterinary Record 140:392-395, 1997. Pubmed reference: 9141221.
1995 Hogasen, K., Jansen, J.H., Mollnes, T.E., Hovdenes, J., Harboe, M. :
Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency Journal of Clinical Investigation 95:1054-1061, 1995. Pubmed reference: 7883953. DOI: 10.1172/JCI117751.
Jansen, J.H., Hogasen, K., Grondahl, A.M. :
Porcine membranoproliferative glomerulonephritis type II - an autosomal recessive deficiency of factor H Veterinary Record 137:240-244, 1995. Pubmed reference: 8533215.
1993 Jansen, J.H. :
Porcine membranoproliferative glomerulonephritis with intramembranous dense deposits (porcine dense deposit disease) APMIS 101:281-189, 1993. Pubmed reference: 8323737.
Jansen, J.H., Hogasen, K., Mollnes, T.E. :
Extensive Complement Activation in Hereditary Porcine Membranoproliferative Glomerulonephritis Type-II (Porcine Dense Deposit Disease) American Journal of Pathology 143:1356-1365, 1993. Pubmed reference: 8238252.

Edit History


  • Created by Frank Nicholas on 01 Dec 2009
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Sep 2012