Table 1.

Molecular Genetic Testing Used in PURA-Related Neurodevelopmental Disorders

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
PURA Sequence analysis 371/79 4
Gene-targeted deletion/duplication analysis 5Unknown 6
CMA 78/79 8
1.

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

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.

n=11 [Lalani et al 2014], n=4 [Hunt et al 2014], n=6 [Tanaka et al 2015], n=1 [Okamoto et al 2017], n=49 [Author, personal observation]

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.

6.

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

7.

Chromosomal microarray analysis (CMA) using oligonucleotide arrays or SNP arrays. CMA designs in current clinical use target the 5q31.3 region.

8.

From: PURA-Related Neurodevelopmental Disorders

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