Table 1.

Molecular Genetic Testing Used in SPTLC1-Related Hereditary Sensory Neuropathy

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
SPTLC1 Sequence analysis 3100% 4
Gene-targeted deletion/duplication analysis 5None reported 6
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.

Includes pathogenic variants in exon 5 and exon 6 [Bejaoui et al 2001; Dawkins et al 2001; Houlden et al 2006; Author, personal communication]; see 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.

No duplications or deletions have been found or are expected as the disease mechanism involves a gain-of-function pathogenic variant of the active site of the enzyme (see Molecular Genetics).

From: SPTLC1-Related Hereditary Sensory Neuropathy

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