Table 1.

Molecular Genetic Testing Used in Lipoid Proteinosis

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
ECM1 Sequence analysis 3>99% 4
Gene-targeted deletion/duplication analysis 5Rare 4, 6
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 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.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2017]

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may 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.

6.

Gross deletions and duplications have been reported in several individuals [Hamada et al 2002, Hameed et al 2009, Nasir et al 2009, Lee et al 2015a].

From: Lipoid Proteinosis

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