Table 2. Summary of Molecular Genetic Testing Used in Familial Cerebral Cavernous Malformation

Gene 1 / Locus NameProportion of FCCM Attributed to Mutations in This Gene 2Test MethodMutations Detected 3
KRIT1 / CCM153%Sequence analysis 4 / mutation scanning 5Sequence variants
Targeted mutation analysisc.1363C>T, p.Gln455Ter (see Details – a)
Duplication/deletion analysis 6Exonic or whole-gene deletions (see Details – b)
CCM2 / CCM215% Sequence analysis 4 Sequence variants
Duplication/deletion analysis 6Exonic or whole-gene deletions (see Details – b)
Targeted mutation analysisDeletion of 77.6 kb including exons 2-10 (see Details – c)
PDCD10 / CCM310%Sequence analysis 4 Sequence variants
Duplication/deletion analysis 6Exonic or whole-gene deletions (see Details – b)

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

2. In non-Hispanic individuals with a positive family history and/or multiple CCMs [Riant et al 2010 and references therein].

3. See Molecular Genetics for information on allelic variants.

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 and mutation scanning of the entire gene can have similar mutation detection frequencies; however, mutation detection rates for mutation scanning may vary considerably between laboratories depending on the specific protocol used.

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.

From: Cerebral Cavernous Malformation, Familial

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