Table 1.

Molecular Genetic Testing Used in RERE-Related Disorders

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
RERE Sequence analysis 318/19 4
Gene-targeted deletion/duplication analysis 51/19 6, 7
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.
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. Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to the whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those with a larger 1p36 deletion) may not be detected by these methods.

6.

Although a 317-kb deletion encompassing exons 1-10 was detected by chromosomal microarray analysis (CMA) [Jordan et al 2018], the detection rate of gene-targeted deletion/duplication analysis is not known.

7.

CMA uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including RERE) 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 1p36 region. CMA designs in current clinical use target the 1p36 region.

From: RERE-Related Disorders

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