Table 2.

Summary of Molecular Genetic Testing Used in Hereditary Coproporphyria

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
CPOXSequence analysisSequence variants 429/31 5
Deletion / duplication analysis 6 Exonic or whole-gene deletionsSee footnote 7
1.

See Table A. Genes and Databases for chromosome locus and protein name.

2.

See Molecular Genetics for information on allelic variants.

3.

The ability of the test method used to detect a mutation that is present in the indicated gene

4.

Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations; typically, exonic or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

5.

Sequence analysis found a mutation in 29 of 31 (94%) individuals with the clinical and biochemical diagnosis of HCP [Whatley et al 2009].

6.

Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

7.

To date, a 13-kb deletion extending from exon 4 to the 3’UTR [Whatley et al 2009] and a 1.3-kb deletion spanning exon 5 (found in four Swedish families) [Barbaro et al 2012] have been reported.

From: Hereditary Coproporphyria

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