Table 1.

Molecular Genetic Testing Used in CMTX5

Gene 1MethodVariants Detected 2Variant Detection Frequency by Method 3
PRPS1 Sequence analysis 4Sequence variants100% 5, 6
Deletion/duplication analysis 7Exon/whole-gene deletions or duplicationsUnknown 8
1.
2.

See Molecular Genetics for information on variants.

3.

The ability of the test method used to detect a pathogenic variant that is present in the indicated gene

4.

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.

5.

Two families reported to date [Kim et al 2007]

6.

Sequence analysis of genomic DNA cannot detect deletion of one or more exons or the entire X-linked gene in a heterozygous female.

7.

Testing that identifies deletions/duplications not readily 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.

8.

No deletions or duplications of PRPS1 have been reported to cause Charcot-Marie-Tooth neuropathy X type 5.

From: Charcot-Marie-Tooth Neuropathy X Type 5 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

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