Table 1.

Molecular Genetic Testing Used in Au-Kline Syndrome

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
HNRNPK Sequence analysis 370/75 4
Gene-targeted deletion/duplication analysis 55/75 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.

Pua et al [2014]; Au et al [2015]; Hancarova et al [2015]; Lange et al [2016]; Miyake et al [2017]; Au et al [2018]; Dentici et al [2018]; Okamoto [2019]; Choufani et al [2022]; Pan et al [2022]; Authors, personal communications; ClinVar (accessed June 2023). Note: There are five known cases of deeper intronic pathogenic variants detected by genome sequencing. These types of pathogenic variants may not be detectable on exome-based platforms.

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 described by Pua et al [2014], Hancarova et al [2015], and Au et al [2018]) may not be detected by these methods.

6.

From: Au-Kline Syndrome

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