Table 1.

Summary of Molecular Genetic Testing Used in Proteus Syndrome

Gene 1Test MethodPathogenic Variants Detected 2Variant Detection Frequency by Test Method 3
AKT1Targeted analysis for pathogenic variantsc.49G>A (p.Glu17Lys)>90% (33/34) 4
1.
2.

See Molecular Genetics for information on allelic variants.

3.

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

4.

Somatic mosaicism for the c.49G>A AKT1 variant is the only pathogenic variant identified to date in individuals with clinically confirmed PS [Lindhurst et al 2011].

From: Proteus Syndrome

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