Table 1.

Molecular Genetic Testing Used in HNRNPU-Related Neurodevelopmental Disorder

Gene 1MethodProportion of Probands with a Pathogenic Variant 2, 3 Detectable by Method
HNRNPU Sequence analysis 498% 5
Gene-targeted deletion/duplication analysis 62% 7
1.
2.

See Molecular Genetics for information on allelic variants detected in this gene.

3.

Three additional individuals with contiguous gene deletions or duplications (not included in these calculations) have been reported (see Genetically Related Disorders) [Caliebe et al 2010, Thierry et al 2012, Bramswig et al 2017].

4.

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.

5.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

6.

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 Caliebe et al [2010] and Thierry et al [2012]) may not be detected by these methods.

7.

One affected individual had deletion of the last three exons of HNRNPU [Durkin et al 2020]. One affected individual has been identified with an HNRNPU deletion that includes exons 1-11 [Taylor et al 2022].

From: HNRNPU-Related Neurodevelopmental Disorder

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