Table 1.

Molecular Genetic Testing Used in GRIN2B-Related Neurodevelopmental Disorder

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
GRIN2B Sequence analysis 382/86 4
Gene-targeted deletion/duplication analysis 5 or chromosomal microarray (CMA) 64/86 4
1.
2.

See Molecular Genetics for information on allelic 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.

For references, see Molecular Pathogenesis, Pathogenic variants. Note: Three additional individuals with contiguous gene deletions (not included in these calculations) have been reported: two with chromosome translocations and one with a chromosome inversion disrupting GRIN2B [Endele et al 2010, Talkowski et al 2012].

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.

Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including GRIN2B) that cannot be detected by sequence analysis. The ability to determine the size of the deletion/duplication depends on the type of microarray used and the density of probes in the 12p13.1 region (which includes GRIN2B). CMA designs in current clinical use target the 12p13.1 region.

From: GRIN2B-Related Neurodevelopmental Disorder

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