ClinGen Dosage Sensitivity Curation Page

FOXL2

Select assembly: (NC_000003.11)

Haploinsufficiency score: 3
Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
Haploinsufficiency Phenotype: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Evidence for haploinsufficiency phenotype
PubMed ID	Description
28924383	In 2017, Chai et al. used PCR on a 4-generational Chinese family with clinically diagnosed blepharophimosis/ptosis/epicanthus inversus syndrome (BPES). Analysis showed an indel mutation of FOXL2 in 8 affected family members leading to predicted truncation of two proteins.
15962237	In 2005, Beysen et al. used MLPA on 37 individuals with clinically diagnosed BPES. Authors report 8 whole or partial FOXL2 deletions with 3 deletions inherited from a parent and 5 deletions with unknown inheritance. 5 other participants had whole or partial deletions of the FOXL2 and ATR genes.
20232352	In 2010, D'haene et al. used multiplex litigation-dependent probe amplification (MLPA) on a cohort of 17 individuals with BPES. 12 individuals had whole FOXL2 deletions and 5 individuals had whole FOXL2 and ATR deletions. Inheritance is unknown for these individuals.
11468277	In 2001, De Baere et al. used PCR on individuals with BPES type I, type II, or with an unknown types of BPES and 30 individuals with premature ovarian failure (POF). The authors found 7 families that had a deletion, nonsense, or frameshift mutation in FOXL2. 2 individuals had de novo deletions, and 1 individuals had a de novo frameshift mutation.
29339661	In 2018, Fang et al. used PCR in a 15-member Chinese family with clinically diagnosed BPES. Analysis showed a 7-bp deletion of FOXL2 in 4 affected family members.
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