Table 1.

Molecular Genetic Testing Used in HOXA1-Related Disorders

Gene 1MethodProportion of Pathogenic Variants 2 Identified by Method
HOXA1 Sequence analysis 3100% 4
Gene-targeted deletion/duplication analysis 5None reported 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 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.

Bosley et al [2008], Patil et al [2020], and data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

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. Exome and genome sequencing may be able to detect deletions/duplications using breakpoint detection or read depth; however, sensitivity can be lower than gene-targeted deletion/duplication analysis.

6.

To date, no large intragenic deletions/duplications have been reported in individuals with HOXA1-related disorders.

From: HOXA1-Related Disorders

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