Table 1.

Molecular Genetic Testing Used in PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Gene 1MethodProportion of Pathogenic Variants 2 Identified by Method
PLOD1 Sequence analysis 367% 4, 5
Gene-targeted deletion/duplication analysis 633% 5
1.
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 missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.
5.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

6.

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.

From: PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

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