Table 1.

Molecular Genetic Testing Used in OTOF-Related Deafness

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
OTOF Sequence analysis 398% 4
Gene-targeted deletion/duplication analysis 5~2% 4, 6
1.

See Table A. Genes and Databases for chromosome locus and protein.

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 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.

4.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2017], the Deafness Variation Database [Azaiez et al 2018], ClinVar, and Leiden Open Variation Database

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include 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.

There have been three reports of a deletion involving OTOF [Zadro et al 2010, Tsai et al 2013, Chang et al 2015]. Two additional deletions were identified at the Molecular Otolaryngology and Renal Research Laboratories [Authors, unpublished observation].

From: OTOF-Related Deafness

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