Table 1.

Molecular Genetic Testing Used in EXOSC3 Pontocerebellar Hypoplasia

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
EXOSC3 Sequence analysis 3~99% 4
Deletion/duplication analysis 5Partial-gene deletion in 1 person 6
1.

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

2.

See Molecular Genetics for information on allelic variants.

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.

Testing that identifies exon or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

6.

From: EXOSC3 Pontocerebellar Hypoplasia

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