Table 1.

Summary of Molecular Genetic Testing Used in DICER1-Related Disorders

Gene 1Test MethodProportion of Probands with a Pathogenic Variant Detectable by This Method
DICER1Sequence analysis 2~65% 3
Deletion/duplication analysis 4See footnote 5
1.

See Table A. Genes and Databases for chromosome locus and protein. See Molecular Genetics for information on allelic variants.

2.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. 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.

3.

Of the 119 children with PPB who were tested, 77 (65%) had a germline loss-of-function variant in the coding region of DICER1 [Hill et al 2010]. It is not known what type of allelic variant accounts for the remainder.

4.

Testing that identifies exon or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Methods that may be used include: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

5.

One family with a deletion involving DICER1 as causative of this disorder has been reported to date [Sabbaghian et al 2014] (see Molecular Genetics).

From: DICER1-Related Disorders

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