Table 1.

Molecular Genetic Testing Used in C3G

Gene 1, 2Proportion of C3G Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 3 Detectable by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
C3 ~11% 6~100%Unknown
CD46 0%~2% 7100%Unknown
CFB <1% 8100%Unknown
CFH ~12% 9~98%~2%
CFHR1
duplication 10		2 individualsNA100% 11
CFHR1/CFHR5 hybrid allele 103 individualsNA100% 12
CFHR3/CFHR1 hybrid allele 105 individualsNA100% 13
CFHR5 See footnote 14.See footnote 15.Unknown (general population); 100% (Cyprus) 14
CFHR5/CFHR2 hybrid allele 102 individualsNA100% 16
CFI ~5% 17100%Unknown
DGKΕ 13 individuals 18~100%Unknown
1.

Genes are listed in alphabetic order.

2.
3.

See Molecular Genetics for information on allelic variants detected in this gene.

4.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

6.
7.
8.
9.
10.

CFHR hybrid alleles are the gene fusion products of nonallelic homologous recombination between the highly homologous CFHR genes [Gale et al 2010, Malik et al 2012, Tortajada et al 2013, Chen et al 2014, Medjeral-Thomas et al 2014, Xiao et al 2016, Togarsimalemath et al 2017] (for details of exon arrangements see Figure 3).

11.
12.
13.
14.

Four individuals of non-Cypriot origin; however, hundreds of affected individuals with a duplication of exons 2 and 3, presumably due to a founder effect, have been identified in Cyprus [Gale et al 2010, Athanasiou et al 2011, Deltas et al 2013].

15.

Three patients of non-Cypriot origin have been reported with variants detectable by sequencing [Sethi et al 2012a, Vernon et al 2012, Besbas et al 2014].

16.
17.
18.

From: C3 Glomerulopathy

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