Table 1.

Molecular Genetic Testing Used in BPES

Gene 1MethodProportion of Probands with a Pathogenic Variant 2, 3 Detectable by Method
FOXL2 Sequence analysis 472% 5
Gene-targeted deletion/duplication analysis 6, 710%-15% 5
Regulatory regions extragenic to FOXL2Deletion/duplication analysis of the regions upstream or downstream of FOXL2 6, 7, 85% 5, 9

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


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


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, and nonsense variants; typically, partial or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


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


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.


Individuals with BPES and an apparently balanced chromosome translocation and no evidence for a sequence variant or copy number variant in FOXL2 have been found to have an intragenic or extragenic interruptions of FOXL2 detected using low-pass whole genome sequencing [Yang et al 2014].


MLPA and other methods for deletion/duplication analysis (see footnote 6) may detect partial-, whole-, or contiguous-gene deletions or upstream or downstream regulatory deletions, depending on the experimental design [Beysen et al 2009, D'haene et al 2009].


From: Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

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