Table 1.

Molecular Genetic Testing Used in Shashi-Pena Syndrome

Gene 1MethodProportion of Pathogenic Variants 2 Identified by Method
ASXL2 Sequence analysis 3100% 4
Gene-targeted deletion/duplication analysis 5None reported 4, 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.

Shashi et al [2016]; Alqaisi & Hassona [2022]; Murphy et al [2022]; Ho et al [2023]; Yuan et al [2023]; Zheng et al [2023]; JM Porter, LDM Pena, RC Spillmann, A Johnson, & V Shashi, unpublished data

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.

To date, no large intragenic deletions/duplications have been reported in individuals with Shashi-Pena syndrome.

From: Shashi-Pena Syndrome

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