Table 2.

Molecular Genetic Testing Used in Branchiootorenal Spectrum Disorder (BORSD)

Gene 1, 2Proportion of BORSD Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 3 Detectable by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
EYA1 40% 680% 620% 6
SIX1 2% 7100% 7Unknown 8
SIX5 2.5% 9100% 9Unknown 8
Unknown 10>50%NA
1.

Genes are listed in alphabetic order.

2.

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

3.

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

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.

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.
7.

Heterozygous pathogenic variants were identified in 10 (4.0%) of 247 unrelated individuals with BORSD syndrome in whom an EYA1 or SIX5 pathogenic variant was not identified [Kochhar et al 2008]. This prevalence implies that SIX1 pathogenic variants account for approximately 2% of cases of BORSD.

8.

No data on detection rate of gene-targeted deletion/duplication analysis are available.

9.

Heterozygous pathogenic variants were identified in 5 (5.2%) of 95 unrelated individuals with BORSD in whom an EYA1 or SIX1 pathogenic variant was not identified [Hoskins et al 2007]; these data imply a SIX5 mutation rate of fewer than 2.5% of persons with BORSD syndrome.

10.

From: Branchiootorenal Spectrum Disorder

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