Table 1.

Molecular Genetic Testing Used in Spastic Paraplegia 4

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
SPAST Sequence analysis 375%-80% 4
Gene-targeted deletion/duplication analysis 520%-25% 6
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.

Benign variants can affect the phenotype (see Genotype-Phenotype Correlations and Molecular Genetics).

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.

Exon and multiexon deletions and duplications account for approximately 20%-25% of SPAST pathogenic variants [Beetz et al 2006, Depienne et al 2007b].

From: Spastic Paraplegia 4

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