Table 1.

Molecular Genetic Testing Used in MYH9-Related Disease

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
MYH9 Sequence analysis 398% 4
Gene-targeted deletion/duplication analysis 5Unknown 6
1.

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

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 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.

The only MYH9 gross deletions/duplications identified to date are deletions/duplications of 21 or 42 bp within exons 21, 24, and 25, which can be detected by sequence analysis. However, because a deletion of 1220 nucleotides with the breakpoints in intron 25 and intron 26 leads to an in-frame removal of exon 26 [Kunishima et al 2008], gene-targeted deletion/duplication analysis may be appropriate in families with a strong clinical history and no identifiable MYH9 pathogenic variant on sequence analysis.

From: MYH9-Related Disease

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