Table 1.

Molecular Genetic Testing Used in Pelizaeus-Merzbacher-Like Disease 1

Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
GJC2 Sequence analysis including promoter regions (first GJC2 noncoding exon) 353/79 4, 5
Gene-targeted deletion/duplication analysis 626/79 4, 5
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.
5.

Twenty-two of 51 reported affected individuals had pathogenic variants in the noncoding exon 1 of GJC2: c.-170A>G in two individuals and c.-167A>G in 20 individuals [Osaka et al 2010, Meyer et al 2011, Combes et al 2012, Kammoun Jellouli et al 2013, Gotoh et al 2014]; thus, it is important that this noncoding exon be included in sequence analysis.

6.

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.

From: Pelizaeus-Merzbacher-Like Disease 1

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