Table 1.

Molecular Genetic Testing Used in FOXP1 Syndrome

Gene 1MethodProportion of Probands with a Pathogenic Variant 2, 3 Detectable by Method
FOXP1 Sequence analysis 4~95% 5
Gene-targeted deletion/duplication analysis 6~5% 5, 7
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.

Additional individuals with contiguous gene deletions (not included in these calculations) have been reported (see Genetically Related Disorders).

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.

S Koene, unpublished data

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.

7.

There are three reports of complex rearrangements including inversions and translocations involving the FOXP1 locus that may be detectable by karyotype [Talkowski et al 2012, Vuillaume et al 2018, Schluth-Bolard et al 2019].

From: FOXP1 Syndrome

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