Table 1.

Molecular Genetic Testing Used in Sialuria

Gene 1Test MethodVariants Detected 2Variant Detection Frequency by Test Method 3
GNE Sequence analysis 4Sequence variants including any in the allosteric domain6/6 5, 6
Sequence analysis of select exons 7Pathogenic missense variants in exons 4 and 5 only 86/6 5, 6
Deletion/duplication analysis 9UnknownUnknown; none reported 10
1.

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

2.

See Molecular Genetics for information on allelic variants.

3.

The ability of the test method used to detect a 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. 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.

Total number of persons known to have been tested to date

6.

Six of the seven known persons with sialuria have been tested; all six had identifiable pathogenic variants in GNE [Ferreira et al 1999, Seppala et al 1999, Aula & Gahl 2001, Enns et al 2001, Leroy et al 2001, Huizing & Krasnewich 2009]. Variants appear to reside exclusively in the short stretch of consecutive nucleotides that have an important role in the allosteric site (see Molecular Genetics).

7.

Exons sequenced may vary by laboratory.

8.

Including the allosteric domain (see Molecular Genetics)

9.

Testing that identifies exon or whole-gene deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosome microarray (CMA) that includes this gene/chromosome segment.

10.

No deletions or duplications in GNE have been reported to cause sialuria.

From: Sialuria – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

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