Table 1.

Molecular Genetic Testing Used in PLA2G6-Associated Neurodegeneration

Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
PLA2G6 Sequence analysis 3~85% 4
Gene-targeted deletion/duplication analysis 5≤12.5% 6
Unknown 7NA
1.

See Table A. Genes and Databases for chromosome locus and protein.

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.

Of all individuals identified with PLA2G6 pathogenic variants, approximately 10% have only one pathogenic variant identified [NBIA International Mutation Database, unpublished data].

5.

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.

6.

Deletion and duplication of multiple exons have been identified Crompton et al [2010] (see Molecular Genetics, Pathogenic variants).

7.

Linkage data support the presence of at least one additional INAD locus [Morgan et al 2006].

From: PLA2G6-Associated Neurodegeneration

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