Table 1.

Molecular Genetic Testing Used in Myhre Syndrome

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
SMAD4 Sequence analysis 3100% 4
Gene-targeted deletion/duplication analysis 5None reported 6
1.
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 missense, nonsense, and splice site variants and small intragenic deletions/insertions; 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.

6.

No exon or whole-gene deletions/duplications have been reported. However, these are not expected to occur since all variants detected so far result in disease by a gain-of-function mechanism (see Molecular Genetics).

From: Myhre Syndrome

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