Table 2.

Molecular Genetic Testing Used in Phosphoribosylpyrophosphate Synthetase (PRS) Superactivity

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
PRPS1 Sequence analysis 310 of 33 4
Gene-targeted 5None reported
1.
2.

See Molecular Genetics for information on 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.

Six males with metabolic and neurodevelopmental abnormalities in infancy or early childhood; one male with onset of metabolic (but not neurodevelopmental) features in the teen years; three women with late childhood-onset gout who were heterozygous for a PRPS1 pathogenic variant. All of the respective PRPS1 pathogenic variants resulted in defects in the allosteric regulation of PRS-I enzyme activity by nucleotides and Pi (see Table 1). To date, no PRPS1 pathogenic variant has been identified in affected individuals who have the mild PRS superactivity phenotype.

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

From: Phosphoribosylpyrophosphate Synthetase Superactivity

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