CFHR5
The Clinical Diagnostics Service of the Molecular Otolaryngology Research Laboratory is a Joint Commission-approved CLIA-accredited diagnostic laboratory that offers mutation screening of several genes.

Complement Factor H-Related 5 (OMIM# *608593)

Membranoproliferative Glomerulonephritis Type II (MPGN2)
Association studies have linked polymorphisms in the Factor H gene (HF1, *134370) with Membranoproliferative Glomerulonephritis Type II (MPGNII, also known as dense Deposit Disease or DDD) (Abrera-Abeleda et al., 2005). MPGNII is a kidney disease in which dense deposits form in the glomerular basement membrane. MPGNII is detected by a renal biopsy at the electron microscopic level and by immunofluorescence.

Complement Factor H-Related 5 (OMIM# *608593)
Complement Factor H-Related 5 is a universal component of complement deposits. It has 551 amino acids organized into 9 short consensus repeat (SCR) motifs. It is unique from the other complement genes in that it contains 5 additional SCR motifs, not present in other complement factor H related proteins. Association studies by Abrera-Abeleda et al, have shown association between three SNPs in the CFHR5 gene and persons with MPGNII.

MORL screening methodology
Oligonucleotide primers have been designed to amplify each exon of CFHR5. Because CFHR5 contains many non-disease causing polymorphisms, it is sequenced directly using overlapping primer sets.

Sensitivity
Sensitivity is greater than 99%.

Turn-around time
Turn around time is approximately 3 months.

Cost: $350

Indications for screening
Screening is offered to persons with biopsy-proven MPGNII/DDD.

References
 

Abrera-Abeleda, M. A et al.: Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). J. Med. Genet. 43: 582-589, 2006.
PubMed ID:  16299065
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McRae, J. L. et al.: Human factor H-related protein 5 (FHR-5): a new complement-associated protein. J. Biol. Chem. 276: 6747-6754, 2001.
PubMed ID: 11058592
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McRae, J. L. et al.: Location and structure of the human FHR-5 gene. Genetica 114: 157-161, 2002.
PubMed ID: 12041828
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