Table 1.

Molecular Genetic Testing Used in Pyruvate Carboxylase Deficiency

Gene 1Method 2Proportion of Probands with Pathogenic Variants 3 Detectable by Method
PC Sequence analysis 495% 5
Gene-targeted deletion/duplication analysis 6Unknown 7
1.
2.

The presence of mosaicism may complicate molecular testing; see Genotype-Phenotype Correlations, Table 2, and Wang et al [2008].

3.

See Molecular Genetics for information on allelic variants detected in this 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.

Sequence analysis of the PC coding region and promoter detects pathogenic variants in 95% of affected individuals, including the most common pathogenic variants: p.Ala610Thr, p.Arg631Gln, and p.Ala847Val.

6.

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.

7.

No data on detection rate of gene-targeted deletion/duplication analysis are available.

From: Pyruvate Carboxylase Deficiency

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