Table 1.

Molecular Genetic Testing Used in CYLD Cutaneous Syndrome

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
CYLD Sequence analysis 340%-100% 4, 5, 6
Gene-targeted deletion/duplication analysis 7Rare 8
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. 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.

A single test center performing CYLD testing over a five-year period detected pathogenic CYLD variants in ∼70% of 56 probands who fulfilled previously published testing criteria using Sanger sequencing of coding exons [ESHG 2019].

5.

In a smaller study of 25 probands, the presence of cylindromas raised the likelihood of pathogenic variant detection to between 86% and 100% [Saggar et al 2008].

6.

In probands with only trichoepitheliomas, the rate of pathogenic variant detection was as low as 40% [Saggar et al 2008].

7.

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

8.

Vanecek et al [2014] reported two affected individuals with large deletions of CYLD out of 13 affected individuals who did not demonstrate a pathogenic CYLD variant using Sanger sequencing.

From: CYLD Cutaneous Syndrome

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