Table 1.

Molecular Genetic Testing Used in Isolated and Classic Cutis Marmorata Telangiectatica Congenita

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
GNA11 Sequence analysis 3Dependent on tissue analyzed & method 4
Unknown 5NA
1.

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

2.

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

3.

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.

4.

Most identified GNA11 pathogenic variants are missense gain-of-function pathogenic variants. Loss-of-function pathogenic variants may lead to other conditions (see Genetically Related Disorders).

5.

Next-generation sequencing of affected tissues has failed to detect GNA11 variants in most people with isolated and classic CMTC, so genetic heterogeneity is very likely present.

From: Isolated and Classic Cutis Marmorata Telangiectatica Congenita

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