Table 1.

Summary of Molecular Genetic Testing Used in EFEMP2-Related Cutis Laxa

Gene 1Test MethodProportion of Probands with a Pathogenic Variant 2 Detectable by This Method
EFEMP2Sequence analysis 3>95%
Gene-targeted deletion/duplication analysis 4None reported
Unknown 5NA
1.
2.

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

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. 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.

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

5.

Cutis laxa is genetically heterogeneous and currently known genes do not account for all patients [Callewaert et al 2013, Urban & Davis 2014].

From: EFEMP2-Related Cutis Laxa

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